Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.I290N

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
10 papers
NM_000123.4
p.I290N
c.869T>A
Surrounding Variants
1 paper
NM_000123.4
p.I290T
c.869T>C
1 paper
NM_000123.4
p.Y289Y
c.867C>T
1 paper
NM_000123.4
p.I292L
c.874A>C
14 papers
NM_000123.4
p.I292L
c.874A>T
1 paper
NM_000123.4
p.H288Q
c.864T>A
1 paper
NM_000123.4
p.H288Q
c.864T>G
7 papers
NM_000123.4
p.I292M
c.876A>G
1 paper
NM_000123.4
p.H288Y
c.862C>T
4 papers
NM_000123.4
p.K293I
c.878A>T
2 papers
NM_000123.4
p.G294S
c.880G>A
1 paper
NM_000123.4
p.G294A
c.881G>C
1 paper
NM_000123.4
p.T286P
c.856A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."