Transcript #00000812 (NM_021140.2, KDM6A gene)

Transcript name lysine (K)-specific demethylase 6A
Gene name KDM6A (lysine (K)-specific demethylase 6A)
Chromosome X
Transcript - NCBI ID NM_021140.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_066963.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

141 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. _1_10i c.-375_(875+1_876-1178){2} r.? p.?
+/. _1_29_ c.-375_*1191{0} r.0 p.0
+/. _1_29_ c.-375_*1191{0} r.0 p.0
?/. _1_29_ c.-375_*1191{2} r.? p.?
+/. _1_29_ c.-375_*1191{2} r.? p.?
?/. _1_29_ c.-375_*1191{2} r.? p.?
+/. _1_29_ c.-375_*1191{2} r.? p.?
+/. _1_29_ c.-375_*1191{2} r.? p.?
?/. _1_29_ c.-375_*1191{2} r.? p.?
+/. _1_2i c.-375_226-19070{0} r.? p.?
+/. _1_29_ c.-375_*1191{0} r.0 p.0
+/. 2i c.-375_225+26501{0}ins? r.? p.?
+/. 2i c.? r.? p.?
-/. - c.5A>G r.(?) p.(Lys2Arg)
-?/. - c.40_51dup r.(?) p.(Ala14_Ala17dup)
-/. - c.48_50dup r.(?) p.(Ala17dup)
-/. - c.48_50dup r.(?) p.(Ala17dup)
-?/. - c.88G>A r.(?) p.(Ala30Thr)
?/. - c.162C>T r.(?) p.(Ser54=)
+/. 2 c.171dup r.(?) p.(Gly58Trpfs*7)
+/. 2 c.190G>T r.(?) p.(Glu64*)
-?/. 3i c.335-70C>A r.(?) p.(=)
-?/. 3i c.335-70C>A r.(?) p.(=)
+/. 4i_9i c.(384+1_385-1)_(748+1_749-1)del r.(del) p.?
?/. - c.401A>G r.(?) p.(Tyr134Cys)
+/. 5i c.443+5G>C r.spl? p.(?)
+/. 5i_6i c.(443+1_444-1)_(564+1_565-1)del r.? p.?
+/. 6 c.514C>T r.(?) p.(Arg172*)
+/. 6 c.514C>T r.(?) p.(Arg172*)
+/. - c.514C>T r.(?) p.(Arg172*)
+/. 6 c.514C>T r.(?) p.(Arg172*)
+/. 6 c.563A>G r.(?) p.(Lys188Arg)
?/. - c.578C>T r.(?) p.(Ala193Val)
+/. 7i c.619+6T>C r.spl? p.(?)
+/. 7i c.620-2A>G r.spl p.?
?/. - c.739C>G r.(?) p.(Gln247Glu)
-?/. - c.749-5dup r.spl? p.?
+/. 10 c.752G>A r.(?) p.(Trp251*)
-?/. - c.823A>G r.(?) p.(Lys275Glu)
-?/. - c.876-14C>T r.(=) p.(=)
+/. 10 c.968C>A r.(?) p.(Ser323* )
+/. - c.975-1G>A r.spl? p.?
?/. - c.1178G>A r.(?) p.(Arg393Gln)
-?/. - c.1215A>T r.(?) p.(Pro405=)
-?/. - c.1284C>T r.(?) p.(Pro428=)
?/. - c.1318A>G r.(?) p.(Thr440Ala)
?/. - c.1324C>A r.(?) p.(Gln442Lys)
?/. - c.1324C>A r.(?) p.(Gln442Lys)
-?/. - c.1330-556T>C r.(=) p.(=)
-?/. - c.1335T>G r.(?) p.(Thr445=)
-?/. - c.1402T>C r.(?) p.(Cys468Arg)
-/. - c.1402T>C r.(?) p.(Cys468Arg)
+/. - c.1423C>T r.(?) p.(Gln475*)
-?/. - c.1523A>G r.(?) p.(His508Arg)
-?/. - c.1527+3G>A r.spl? p.?
-?/. - c.1527+3G>A r.spl? p.?
+/. - c.1528-1G>A r.spl? p.?
+/. 6 c.1555C>T r.(?) p.(Arg519*)
-?/. - c.1718C>T r.(?) p.(Ser573Phe)
-?/. - c.1741A>G r.(?) p.(Thr581Ala)
-?/. - c.1751C>T r.(?) p.(Thr584Met)
-/. - c.1751C>T r.(?) p.(Thr584Met)
-?/. - c.1751C>T r.(?) p.(Thr584Met)
-?/. - c.1751C>T r.(?) p.(Thr584Met)
-?/. - c.1792A>G r.(?) p.(Ile598Val)
?/. - c.1823C>T r.(?) p.(Pro608Leu)
+/. 16 c.1846_1849del r.(?) p.(Thr616Tyrfs*8)
+/. 16 c.1846_1849del r.(?) p.(Thr616Tyrfs*8)
?/. - c.1862G>A r.(?) p.(Arg621His)
?/. - c.1862G>A r.(?) p.(Arg621His)
?/. - c.1868A>C r.(?) p.(Asn623Thr)
+/. 16 c.1909_1912del r.1909_1912del p.Ser637Thrfs*53
?/. - c.1923+4A>G r.spl? p.?
-?/. - c.1973G>A r.(?) p.(Arg658Gln)
?/. - c.2126A>G r.(?) p.(Gln709Arg)
?/. 17 c.2177C>A r.(?) p.(Thr726Lys)
+/. 17 c.2226_2227dup r.(?) p.(Ser743Thrfs*13)
+/. 16 c.2263_2272del r.(?) p.(Thr755Leufs*16)
?/. - c.2331T>A r.(?) p.(Asn777Lys)
-?/. - c.2331T>A r.(?) p.(Asn777Lys)
?/. - c.2387C>T r.(?) p.(Thr796Ile)
?/. - c.2402A>G r.(?) p.(Asn801Ser)
?/. - c.2423A>G r.(?) p.(His808Arg)
+/. - c.2503C>T r.(?) p.(Gln835Ter)
+/. 17 c.2515_2518del r.(?) p.(Asn839Valfs*27)
?/. - c.2605G>T r.(?) p.(Asp869Tyr)
-?/. - c.2689C>G r.(?) p.(Leu897Val)
-/. - c.2703-16T>C r.(=) p.(=)
-?/. 17i c.2703-6_2703-5del r.(?) p.(=)
-?/. 17i c.2703-5del r.(?) p.(=)
-?/. - c.2703-5del r.spl? p.?
-?/. 17i c.2703-5del r.(?) p.(=)
-/. - c.2703-5del r.spl? p.?
-/. - c.2703-5del r.spl? p.?
?/. 18 c.2729A>G r.(?) p.(Asn910Ser)
?/. - c.2732G>C r.(?) p.(Ser911Thr)
+?/. - c.2813C>T r.(?) p.(Pro938Leu)
+?/. - c.2821C>T r.(?) p.(Pro941Ser)
+/. 18i c.2832+1G>A r.spl p.?
?/. 19 c.2939A>T r.(?) p.(Asp980Val)
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