Transcript #00000117 (NM_004187.3, KDM5C gene)

Transcript name lysine (K)-specific demethylase 5C, transcript variant 1
Gene name KDM5C (lysine (K)-specific demethylase 5C)
Chromosome X
Transcript - NCBI ID NM_004187.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_004178.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.1A>G r.(?) p.(Met1?)
?/. - c.80C>T r.(?) p.(Pro27Leu)
?/. - c.80C>T r.(?) p.(Pro27Leu)
+?/. - c.89A>G r.(?) p.(Tyr30Cys)
+?/. - c.94dup r.(?) p.(Ala32GlyfsTer43)
+?/. - c.150+1G>T r.spl p.?
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24)
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24)
+/. 2 c.151dup r.spl? p.(Asp51Glyfs*24)
+/. - c.202C>T r.(?) p.(Arg68Ter)
?/. - c.229-382T>C r.(=) p.(=)
?/. - c.229-382T>C r.(=) p.(=)
?/. - c.254A>T r.(?) p.(Tyr85Phe)
+?/. 3 c.332A>T r.(?) p.(Asp111Val)
?/. - c.406C>T r.(?) p.(Arg136Trp)
-?/. - c.408G>C r.(?) p.(Arg136=)
+?/. - c.415C>T r.(?) p.(Gln139Ter)
-?/. - c.423C>T r.(?) p.(Leu141=)
+?/. - c.470A>G r.(?) p.(Tyr157Cys)
?/. - c.490T>A r.(?) p.(Tyr164Asn)
-/. - c.522+19G>A r.(=) p.(=)
-?/. - c.536G>A r.(?) p.(Arg179His)
-?/? 5 c.564G>A r.(?) p.(=)
-?/. - c.573A>G r.(?) p.(Lys191=)
+?/. - c.592C>T r.(?) p.(Arg198*)
?/. - c.631C>T r.(?) p.(Arg211Trp)
./. - c.658-1G>T r.spl? p.?
+/. - c.658-1G>T r.spl p.?
?/. - c.791G>A r.(?) p.(Gly264Glu)
?/. - c.875T>C r.(?) p.(Leu292Pro)
?/. - c.880A>G r.(?) p.(Ser294Gly)
-?/. - c.896G>A r.(?) p.(Ser299Asn)
+?/. - c.963+1G>T r.spl? p.?
+?/. 7i c.963+2T>C r.spl? p.?
?/. - c.1111T>A r.(?) p.(Cys371Ser)
?/. - c.1112G>A r.(?) p.(Cys371Tyr)
+?/. - c.1122+1G>A r.spl p.(?)
+/. 8i c.1123-1G>A r.spl p.?
?/. - c.1226T>C r.(?) p.(Phe409Ser)
-?/. - c.1236C>T r.(?) p.(Pro412=)
+/. - c.1243-2A>G r.spl? p.?
+?/. 10 c.1259T>C r.(?) p.(Leu420Pro)
+?/. - c.1270G>T r.(?) p.(Glu424*)
+/. - c.1296dup r.(?) p.(Glu433*)
-?/. - c.1329C>T r.(?) p.(Asp443=)
+/. - c.1399G>T r.(?) p.(Glu467*)
+?/. - c.1508A>G r.(?) p.(Tyr503Cys)
+?/. - c.1510G>A r.(?) p.(Val504Met)
+?/. - c.1573T>G r.(?) p.(Tyr525Asp)
?/. - c.1592C>T r.(?) p.(Pro531Leu)
+?/. 12 c.1592C>T r.(?) p.(Pro531Leu)
./. - c.1599del r.(?) p.(Trp534Glyfs*15)
+?/. - c.1602G>T r.(?) p.(Trp534Cys)
?/. - c.1646T>C r.(?) p.(Met549Thr)
+?/. 12 c.1697A>T r.(?) p.(Gln566Leu)
-?/? 13 c.1764G>A r.(?) p.(=)
-?/. - c.1764G>A r.(?) p.(Gln588=)
-/. - c.1764G>A r.(?) p.(Gln588=)
+?/. - c.1793C>T r.(?) p.(Pro598Leu)
+?/. - c.1793C>T r.(?) p.(Pro598Leu)
-?/. - c.1794C>T r.(?) p.(Pro598=)
-?/. - c.1794C>T r.(?) p.(Pro598=)
+/. 13 c.1795C>T r.(?) p.(Arg599Cys)
+?/. - c.1795C>T r.(?) p.(Arg599Cys)
?/. - c.1810G>A r.(?) p.(Gly604Ser)
+?/. - c.1823G>A r.(?) p.(Gly608Asp)
+?/. - c.1864T>G r.(?) p.(Trp622Gly)
+/. - c.1898A>T r.(?) p.(Tyr633Phe)
+/. - c.1916dup r.(?) p.(Tyr639*)
+/. - c.1933G>T r.(?) p.(Glu645Ter)
-?/. - c.1989G>A r.(?) p.(Ala663=)
+/. - c.2041C>T r.(?) p.(Arg681Ter)
+/. - c.2041C>T r.(?) p.(Arg681Ter)
-?/. - c.2046G>A r.(?) p.(Lys682=)
+/. 14 c.2047del r.(?) p.(Ala683Profs*81)
+/. - c.2080C>T r.(?) p.(Arg694*)
+?/. - c.2110G>A r.(?) p.(Glu704Lys)
+/. - c.2120G>A r.(?) p.(Cys707Tyr)
?/? 15 c.2138C>T r.(?) p.(Thr713Met)
+/. - c.2152G>C r.(?) p.(Ala718Pro)
+?/. - c.2170dup r.(?) p.(Cys724LeufsTer13)
+?/. 15i c.2243+1G>T r.spl p.?
./. - c.2243+2T>C r.spl? p.?
-?/. - c.2243+7A>G r.(=) p.(=)
-?/. - c.2243+7A>G r.(=) p.(=)
?/. - c.2243+11G>T r.(=) p.(=)
?/. - c.2243+11G>T r.(=) p.(=)
-/. - c.2243+11G>T r.(=) p.(=)
-/. - c.2243+11G>T r.(=) p.(=)
?/. - c.2267T>C r.(?) p.(Leu756Pro)
?/. - c.2296C>T r.(?) p.(Arg766Trp)
?/. - c.2299G>T r.(?) p.(Ala767Ser)
-?/. - c.2315C>A r.(?) p.(Thr772Asn)
?/. 17i c.2517-285T>C r.(?) p.(=)
?/. 17i c.2517-285T>C r.(?) p.(=)
?/. 17i c.2517-285T>C r.(?) p.(=)
-?/. - c.2517-9_2517-7dup r.(=) p.(=)
-?/. - c.2517-9_2517-7dup r.(=) p.(=)
-?/. - c.2517-9_2517-7dup r.(=) p.(=)
-?/. - c.2529G>T r.(?) p.(Val843=)
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