Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.M476V

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.M476V
c.1426A>G
Surrounding Variants
1 paper
NM_000123.4
p.S477A
c.1429T>G
1 paper
NM_000123.4
p.L478F
c.1432C>T
1 paper
NM_000123.4
p.E474fs
c.1420_1421fs
1 paper
NM_000123.4
p.P472L
c.1415C>T
1 paper
NM_000123.4
p.P472S
c.1414C>T
1 paper
NM_000123.4
p.V481L
c.1441G>C
1 paper
NM_000123.4
p.V481L
c.1441G>T
1 paper
NM_000123.4
p.G482_P487del6
c.1444_1460del18
1 paper
NM_000123.4
p.S470*
c.1409C>A
1 paper
NM_000123.4
p.S470*
c.1409C>G
1 paper
NM_000123.4
p.G482R
c.1444G>A
1 paper
NM_000123.4
p.G482R
c.1444G>C
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."