Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.H249L

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.H249L
c.746A>T
Surrounding Variants
1 paper
NM_000123.4
p.V250A
c.749T>C
1 paper
NM_000123.4
p.E248*
c.742G>T
3 papers
NM_000123.4
p.I247V
c.739A>G
1 paper
NM_000123.4
p.H246Q
c.738T>A
1 paper
NM_000123.4
p.Q245E
c.733C>G
1 paper
NM_000123.4
p.Q245*
c.733C>T
20 papers
NM_000123.4
p.M254V
c.760A>G
1 paper
NM_000123.4
p.M254R
c.761T>G
1 paper
NM_000123.4
p.M254I
c.762G>A
1 paper
NM_000123.4
p.M254I
c.762G>C
1 paper
NM_000123.4
p.M254I
c.762G>T
2 papers
NM_000123.4
p.N255D
c.763A>G
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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."