Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E306K

ERCC5

1,002 papers

RefSeq Summary

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, in...

Pfam Domains

XPG_Naa 1–98UCSCXPG N-terminal domain
XPG_Iaa 780–861UCSCXPG I-region

Gene Aliases

HGNC Name

ERCC excision repair 5, endonuclease

HGNC Previous Symbols

ERCM2; XPGC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000123.4
p.E306K
c.916G>A
Surrounding Variants
1 paper
NM_000123.4
p.E306Q
c.916G>C
1 paper
NM_000123.4
p.E306*
c.916G>T
1 paper
NM_000123.4
p.L308delFs
c.922_923delCT
1 paper
NM_000123.4
p.D304V
c.911A>T
1 paper
NM_000123.4
p.L308fs
c.922_923fs
1 paper
NM_000123.4
p.L308F
c.922C>T
2 papers
NM_000123.4
p.L308fs
c.922_923fs
1 paper
NM_000123.4
p.P309L
c.926C>T
1 paper
NM_000123.4
p.S311P
c.931T>C
6 papers
NM_000123.4
p.S311C
c.932C>G
1 paper
NM_000123.4
p.S312S
c.936C>T
1 paper
NM_000123.4
p.K313*
c.937A>T
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