Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.I262V

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.I262V
c.784A>G
Surrounding Variants
1 paper
NM_000123.4
p.H261delFs
c.783delC
1 paper
NM_000123.4
p.I262M
c.786C>G
16 papers
NM_000123.4
p.R263*
c.787C>T
1 paper
NM_000123.4
p.H261_E269del0
c.783_806del24
5 papers
NM_000123.4
p.R263Q
c.788G>A
1 paper
NM_000123.4
p.R263L
c.788G>T
1 paper
NM_000123.4
p.Q265R
c.794A>G
1 paper
NM_000123.4
p.Q257H
c.771A>C
2 papers
NM_000123.4
p.Y266C
c.797A>G
1 paper
NM_000123.4
p.Q257H
c.771A>T
8 papers
NM_000123.4
p.Q256R
c.767A>G
1 paper
NM_000123.4
p.D268A
c.803A>C
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