Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E791A

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
23 papers
NM_000123.4
p.E791A
c.2372A>C
Surrounding Variants
1 paper
NM_000123.4
p.E791G
c.2372A>G
3 papers
NM_000123.4
p.E791D
c.2373G>C
3 papers
NM_000123.4
p.E791D
c.2373G>T
26 papers
NM_000123.4
p.A792V
c.2375C>T
1 paper
NM_000123.4
p.A790V
c.2369C>T
5 papers
NM_000123.4
p.M788I
c.2364G>A
4 papers
NM_000123.4
p.M788I
c.2364G>C
4 papers
NM_000123.4
p.M788I
c.2364G>T
1 paper
NM_000123.4
p.C794S
c.2380T>A
1 paper
NM_000123.4
p.C794S
c.2381G>C
10 papers
NM_000123.4
p.A795T
c.2383G>A
1 paper
NM_000123.4
p.A786G
c.2357C>G
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