Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.L234H

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.L234H
c.701T>A
Surrounding Variants
2 papers
NM_000123.4
p.Q233K
c.697C>A
5 papers
NM_000123.4
p.Q233*
c.697C>T
1 paper
NM_000123.4
p.G236A
c.707G>C
1 paper
NM_000123.4
p.G236G
c.708C>T
1 paper
NM_000123.4
p.Q231del1
c.691_692delCAG
1 paper
NM_000123.4
p.S230P
c.688T>C
1 paper
NM_000123.4
p.K239E
c.715A>G
1 paper
NM_000123.4
p.F229L
c.687T>A
1 paper
NM_000123.4
p.F229L
c.687T>G
1 paper
NM_000123.4
p.F229L
c.685T>C
1 paper
NM_000123.4
p.K240R
c.719A>G
1 paper
NM_000123.4
p.D228Y
c.682G>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."