Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.K298N

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.K298N
c.894G>T
Surrounding Variants
1 paper
NM_000123.4
p.K298N
c.894G>C
1 paper
NM_000123.4
p.Q296H
c.888A>C
1 paper
NM_000123.4
p.Q296H
c.888A>T
2 papers
NM_000123.4
p.Q296P
c.887A>C
1 paper
NM_000123.4
p.I295T
c.884T>C
2 papers
NM_000123.4
p.G294fs
c.880_881fs
1 paper
NM_000123.4
p.D304V
c.911A>T
1 paper
NM_000123.4
p.E306K
c.916G>A
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.L308fs
c.922_923fs
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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."