Transcript #00002740

Transcript name transcript variant 1
Gene name AR (androgen receptor)
Chromosome X
Transcript - NCBI ID NM_000044.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000035.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1543 entries on 16 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

Class.     

RNA change     

Protein     

P-domain     

Enzyme activity     
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax low; kD low
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax low; kD normal
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax normal
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - Bmax zero; kD zero
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1370_1420= GGC[17] - r.(?) p.(Gly468_Gly473del) - -
-?/. 1 c.1388_1420dup GGC[28] - r.(?) p.(Gly469_Gly473dup) - Bmax zero
-?/. 1 c.1391_1420dup GGC[27] - r.(?) p.(Gly470_Gly473dup) - -
-?/. 1 c.1394_1420dup GGC[26] - r.(?) p.(Gly471_Gly473dup) - Bmax zero
-?/. 1 c.1397_1420dup GGC[25] - r.(?) p.(Gly472_Gly473dup) - Bmax zero
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax v low
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax v low
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax v low; kD normal
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD normal; k normal
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - -
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD high; k high; thermolabile
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax normal; kD normal; k normal
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax zero
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax zero
-?/. 1 c.1400_1420dup GGC[24] - r.(?) p.(Gly473dup) - Bmax zero
-?/. 1 c.1403_1420del GGC[11] - r.(?) p.(Gly462_Gly473del) - -
-?/. 1 c.1403_1420del GGC[11] - r.(?) p.(Gly462_Gly473del) - -
-?/. 1 c.1406_1420dup GGC[22] - r.(?) p.(Gly473del) - Bmax low; k normal
-?/. 1 c.1406_1420dup GGC[22] - r.(?) p.(Gly473del) - -
-?/. 1 c.1409_1420del GGC[13] - r.(?) p.(Gly464_Gly473del) - Bmax low; kD high
-?/. 1 c.1412_1420del GGC[14] - r.(?) p.(Gly465_Gly473del) - -
-?/. 1 c.1412_1420del GGC[14] - r.(?) p.(Gly465_Gly473del) - -
-?/. 1 c.1415_1420del GGC[15] - r.(?) p.(Gly466_Gly473del) - Bmax zero
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - Bmax normal; kD normal
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - Bmax zero
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - -
-?/. 1 c.1415_1420dup GGC[19] - r.(?) p.(Gly470_Gly473del) - -
-?/. 1 c.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high
-?/. 1 c.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high
-?/. 1 c.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax zero
-?/. 1 c.1418_1420del GGC[16] - r.(?) p.(Gly467_Gly473del) - Bmax normal; kD high; k normal
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD normal
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD normal
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax low; kD high
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - Bmax zero; kD zero
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
-?/. 1 c.1418_1420dup GGC[18] - r.(?) p.(Gly469_Gly473del) - -
+/. 1 c.1500T>? - - r.(?) p.(=) N-term -
+/. 1i_8 c.1617-?_(*436_?)del - - r.(?) p.? - Bmax zero
+/. 2i_8 c.1769-?_(*436_?)del - - r.(?) p.? - -
+/. 3i_8 c.1886-?_(*436_?)del - - r.(?) p.? LBD Bmax zero
+/. ? c.? - - r.(?) p.? - -
+/. 1 c.? - - r.(?) p.(Gly489fs*) N-term Bmax low
+/. 2i c.? - - r.(?) p.? - -
+/. 2i c.? - - r.spl? p.? - Bmax zero
+/. 2i c.? - - r.spl? p.? - -
+/. 3 c.? - - r.(?) p.? DBD Bmax zero
+/. 3 c.? - - r.(?) p.? DBD -
+/. 4 c.? - - r.(?) p.(Val716*) LBD -
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