Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.V597L

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
7 papers
NM_000123.4
p.V597L
c.1789G>C
Surrounding Variants
6 papers
NM_000123.4
p.V597L
c.1789G>T
1 paper
NM_000123.4
p.V597A
c.1790T>C
1 paper
NM_000123.4
p.A596V
c.1787C>T
1 paper
NM_000123.4
p.E595A
c.1784A>C
1 paper
NM_000123.4
p.N599H
c.1795A>C
1 paper
NM_000123.4
p.V600M
c.1798G>A
1 paper
NM_000123.4
p.V600delFs
c.1799delT
1 paper
NM_000123.4
p.P593H
c.1778C>A
1 paper
NM_000123.4
p.P593L
c.1778C>T
1 paper
NM_000123.4
p.P593T
c.1777C>A
1 paper
NM_000123.4
p.P593S
c.1777C>T
1 paper
NM_000123.4
p.E601E
c.1803A>G
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