Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.F769L

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.F769L
c.2305T>C
Surrounding Variants
1 paper
NM_000123.4
p.M768I
c.2304G>A
1 paper
NM_000123.4
p.M768I
c.2304G>C
1 paper
NM_000123.4
p.M768I
c.2304G>T
1 paper
NM_000123.4
p.F769L
c.2307C>A
1 paper
NM_000123.4
p.F769L
c.2307C>G
4 papers
NM_000123.4
p.G766R
c.2296G>A
4 papers
NM_000123.4
p.G766R
c.2296G>C
3 papers
NM_000123.4
p.A761V
c.2282C>T
5 papers
NM_000123.4
p.A761T
c.2281G>A
1 paper
NM_000123.4
p.R759Q
c.2276G>A
2 papers
NM_000123.4
p.R759L
c.2276G>T
1 paper
NM_000123.4
p.R759W
c.2275C>T
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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."