All transcript variants in gene AR

Information The variants shown are described using the NM_000044.3 transcript reference sequence.

1444 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

P-domain     

Enzyme activity     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 c.(1580_1581)G>A - r.(?) p.(Trp527*) N-term - g.? - - - AR_000000 - Hyytinen et al. Lab Invest. 82: 1591-1598, 2002 - Somatic - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 - PubMed: Ahmed 2000 - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 - PubMed: Hiort 1996 - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 - Quigley et al. J Clin Endocrinol Metab 74: 927-933, 1992 - Germline - - - 0 - Bruce Gottlieb
+/. 1_8 c.(?_-1115)_(*436_?)del - r.0 p.0 - Bmax zero g.? - - - AR_000122 deletion breakpoints not yet defined Trifiro et al. Mol Cell Endocrinol 75: 37-47, 1991 - Germline - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term Bmax normal; kD normal g.? - - - AR_000450 CAG8; normal maternal uncle CAG23 Kooy et al. Am J Med Genet 85: 389-393. 1999 - Germline - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 expansion of Gln repeat >40 LaSpada et al. Nature 352: 77-79, 1991 - Germline - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 contraction of Gln repeat (24 to 18) Schoenberg et al. Biochem Biophys Res Comm 198: 74-80 1994 - Somatic - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 - Urushibata et al. 10th. Int. Cong. Endocrinol Abstr. P3-706, 1996 - Somatic - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 contraction of Gln repeat (20 to 18) Wallin et al. J Pathology 189: 559-653, 1999 - Somatic - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - Somatic - - - 0 - Bruce Gottlieb
+/. 1i c.(?_-1115)_6161+?del - r.0 p.0 N-term - g.? - - - AR_000450 - Watanabe et al. Jpn J Clin Oncol 27: 389-393, 1997 - Somatic - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[11] - r.(?) p.(Gly462_Gly473del) - - g.? - Gly11 - AR_000368 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[11] - r.(?) p.(Gly462_Gly473del) - - g.? - Gly11 - AR_000368 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[13] - r.(?) p.(Gly464_Gly473del) - Bmax low; kD high g.? - Gly13 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[14] - r.(?) p.(Gly465_Gly473del) - - g.? - Gly14 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[14] - r.(?) p.(Gly465_Gly473del) - - g.? - Gly14 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[15] - r.(?) p.(Gly466_Gly473del) - Bmax zero g.? - Gly15 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high g.? - Gly16 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) - Bmax zero g.? - Gly16 - AR_000005 - PubMed: Shkolny 1995 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high; k normal g.? - Gly16 - AR_000005 - Beitel et al. J Clin Inv, 94: 546-554 1994 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high g.? - Gly16 - AR_000005 - Kazemi-Esfarjani et al. Mol Endocrinol, 7: 37-46, 1993 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Bmax low; kD low g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Bmax low; kD normal g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - Bmax normal g.? - Gly17 - AR_000005 - Wong et al. Mol Cell Endocrinol 292: 69-78, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[17] - r.(?) p.(Gly468_Gly473del) - - g.? - Gly17 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD normal g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD normal g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD high g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[18] - r.(?) p.(Gly469_Gly473del) - - g.? - Gly18 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - Bmax normal; kD normal g.? - Gly19 - AR_000005 - PubMed: Audi 2010 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero g.? - Gly19 - AR_000005 - PubMed: Shkolny 1995 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - - g.? - Gly19 - AR_000005 - Chelnski et al. The Prostate 47: 66-75, 2001 - Somatic - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero g.? - Gly19 - AR_000005 - Prior et al. Am J Hum Genet 51: 143, 1992 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[19] - r.(?) p.(Gly470_Gly473del) - - g.? - Gly19 - AR_000005 - Zuccarello et al. Clin Endocrinol 68: 58-588, 2008 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[22] - r.(?) p.(Gly473del) - Bmax low; k normal g.? - Gly22 - AR_000005 - PubMed: Pinsky 1992 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[22] - r.(?) p.(Gly473del) - - g.? - Gly22 - AR_000005 - Thiele et al. J Clin Endocrinol Metab 84: 1751-1753. 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax normal; kD normal; k normal g.? - Gly24 - AR_000005 - PubMed: Ghadessy 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax zero g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax zero g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax zero g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax v low g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax v low g.? - Gly24 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax v low; kD normal g.? - Gly24 - AR_000005 - PubMed: Hellwinkel 2001 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax normal; kD normal; k normal g.? - Gly24 - AR_000005 - PubMed: Shkolny 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high; k high; thermolabile g.? - Gly24 - AR_000005 - Beitel et al. J Clin Inv, 94: 546-554 1994 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[24] - r.(?) p.(Gly473dup) - - g.? - Gly24 - AR_000005 - Yeh et al. Int J Cancer 120: 1610-1617, 2007 - Somatic - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[25] - r.(?) p.(Gly472_Gly473dup) - Bmax zero g.? - Gly25 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[26] - r.(?) p.(Gly471_Gly473dup) - Bmax zero g.? - Gly26 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[27] - r.(?) p.(Gly470_Gly473dup) - - g.? - Gly27 - AR_000005 - PubMed: Gottlieb 1999 - Germline - - - 0 - Bruce Gottlieb
-?/. 1 c.1351GGY[28] - r.(?) p.(Gly469_Gly473dup) - Bmax zero g.? - Gly28 - AR_000005 - PubMed: Holterhus 2005b - Germline - - - 0 - Bruce Gottlieb
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