Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.A369V

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
2 papers
NM_000123.4
p.A369V
c.1106C>T
Surrounding Variants
1 paper
NM_000123.4
p.Q368Q
c.1104G>A
3 papers
NM_000123.4
p.Q368H
c.1104G>C
1 paper
NM_000123.4
p.R370H
c.1109G>A
1 paper
NM_000123.4
p.R367R
c.1101G>A
1 paper
NM_000123.4
p.G371W
c.1111G>T
3 papers
NM_000123.4
p.R372_N373delFs
c.1114_1117del4
1 paper
NM_000123.4
p.R372fs
c.1114_1115fs
2 papers
NM_000123.4
p.R372fs
c.1114_1115fs
1 paper
NM_000123.4
p.R372T
c.1115G>C
9 papers
NM_000123.4
p.R366*
c.1096C>T
1 paper
NM_000123.4
p.R372S
c.1116G>C
1 paper
NM_000123.4
p.R372S
c.1116G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."