Transcript #00005400

Transcript name excision repair cross-complementing rodent repair deficiency, complementation group 6
Gene name ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)
Chromosome 10
Transcript - NCBI ID NM_000124.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000115.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

351 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-14-17A>C r.(=) p.(=)
?/? c.-11G>C r.(=) p.(=)
?/? c.114T>G r.(?) p.(Asp38Glu)
?/? c.135C>G r.(=) p.(=)
?/? c.147T>C r.(=) p.(=)
?/? c.150G>A r.(=) p.(=)
?/? c.156C>T r.(=) p.(=)
?/? c.201G>A r.(=) p.(=)
?/? c.206G>A r.(?) p.(Gly69Glu)
?/? c.246A>G r.(=) p.(=)
?/? c.295G>A r.(?) p.(Val99Ile)
?/? c.310G>T r.(?) p.(Val104Leu)
?/? c.344A>G r.(?) p.(Asn115Ser)
?/? c.352C>T r.(?) p.(His118Tyr)
?/? c.364C>A r.(?) p.(Arg122Ser)
?/? c.378C>T r.(=) p.(=)
?/? c.384C>T r.(=) p.(=)
?/? c.385G>A r.(?) p.(Val129Met)
?/? c.400C>T r.(?) p.(Arg134Trp)
?/? c.411G>A r.(=) p.(=)
?/? c.422+39A>G r.(=) p.(=)
?/? c.422+48C>A r.(=) p.(=)
?/? c.423-39del r.(=) p.(=)
?/? c.431C>T r.(?) p.(Thr144Met)
?/? c.438C>T r.(=) p.(=)
?/? c.507G>A r.(=) p.(=)
?/? c.528A>G r.(=) p.(=)
?/? c.530A>G r.(?) p.(Gln177Arg)
?/? c.565A>G r.(?) p.(Thr189Ala)
?/? c.590C>T r.(?) p.(Ala197Val)
?/? c.630C>T r.(=) p.(=)
?/? c.631G>A r.(?) p.(Ala211Thr)
?/? c.652+9G>T r.(=) p.(=)
?/? c.652+36A>G r.(=) p.(=)
?/? c.652+42T>G r.(=) p.(=)
?/? c.652+43G>A r.(=) p.(=)
?/? c.653-27C>T r.(=) p.(=)
?/? c.656C>T r.(?) p.(Pro219Leu)
?/? c.670C>T r.(?) p.(Leu224Phe)
?/? c.721C>T r.(?) p.(Arg241Cys)
?/? c.723C>T r.(=) p.(=)
?/? c.752A>G r.(?) p.(Gln251Arg)
?/? c.795T>C r.(=) p.(=)
?/? c.845C>A r.(?) p.(Ser282Tyr)
?/? c.858G>C r.(?) p.(Lys286Asn)
?/? c.885T>C r.(=) p.(=)
?/? c.886A>G r.(?) p.(Arg296Gly)
?/? c.909G>T r.(=) p.(=)
?/? c.980G>A r.(?) p.(Arg327His)
?/? c.1022A>G r.(?) p.(Gln341Arg)
?/? c.1145A>G r.(?) p.(Glu382Gly)
?/? c.1146G>A r.(=) p.(=)
?/? c.1158C>G r.(?) p.(Asp386Glu)
?/? c.1159G>A r.(?) p.(Glu387Lys)
?/? c.1170G>A r.(=) p.(=)
?/? c.1178C>T r.(?) p.(Ala393Val)
?/? c.1191A>T r.(=) p.(=)
?/? c.1193A>G r.(?) p.(Asp398Gly)
?/? c.1196G>A r.(?) p.(Gly399Asp)
?/? c.1229G>A r.(?) p.(Gly410Asp)
?/? c.1230C>T r.(=) p.(=)
?/? c.1237C>T r.(?) p.(Arg413Trp)
?/? c.1238G>T r.(?) p.(Arg413Leu)
?/? c.1274A>C r.(?) p.(Asp425Ala)
?/? c.1273_1275del r.(?) p.(Asp425del)
?/? c.1290T>C r.(=) p.(=)
?/? c.1292G>T r.(?) p.(Gly431Val)
?/? c.1319_1321del r.(?) p.(Gly440del)
?/? c.1322A>G r.(?) p.(Glu441Gly)
?/? c.1337G>A r.(?) p.(Gly446Asp)
?/? c.1379A>C r.(?) p.(Tyr460Ser)
?/? c.1390C>T r.(?) p.(Arg464Trp)
?/? c.1391G>T r.(?) p.(Arg464Leu)
?/? c.1397+24A>T r.(=) p.(=)
?/? c.1397+6913C>G r.(=) p.(=)
?/? c.1397+6939A>G r.(=) p.(=)
?/? c.1397+6941A>G r.(?) p.(His8Arg)
?/? c.1397+7001A>G r.(?) p.(Gln28Arg)
?/? c.1397+7017T>A r.(=) p.(=)
?/? c.1397+7051G>C r.(?) p.(Glu45Gln)
?/? c.1397+7055_1397+7057del r.(?) p.(Glu46del)
?/? c.1397+7063A>T r.(?) p.(Thr49Ser)
?/? c.1397+7144_1397+7145del r.(?) p.(Asp76*)
?/? c.1397+7158C>T r.(=) p.(=)
?/? c.1397+7159G>A r.(?) p.(Ala81Thr)
?/? c.1397+7186G>C r.(?) p.(Val90Leu)
?/? c.1397+7197G>A r.(=) p.(=)
?/? c.1397+7210C>T r.(?) p.(Gln98*)
?/? c.1397+7266A>G r.(=) p.(=)
?/? c.1397+7269C>T r.(=) p.(=)
?/? c.1397+7293A>C r.(=) p.(=)
?/? c.1397+7304C>T r.(?) p.(Thr129Ile)
?/? c.1397+7305A>G r.(=) p.(=)
?/? c.1397+7330G>A r.(?) p.(Val138Ile)
?/? c.1397+7356T>C r.(=) p.(=)
?/? c.1397+7361T>A r.(?) p.(Leu148His)
?/? c.1397+7368del r.(?) p.(Asp151Metfs*25)
?/? c.1397+7387C>T r.(?) p.(Leu157Phe)
?/? c.1397+7388T>G r.(?) p.(Leu157Arg)
?/? c.1397+7401C>G r.(?) p.(Tyr161*)
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