Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.P593S

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.P593S
c.1777C>T
Surrounding Variants
1 paper
NM_000123.4
p.P593T
c.1777C>A
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.V592I
c.1774G>A
1 paper
NM_000123.4
p.V592insFs
c.1774_1775ins5
1 paper
NM_000123.4
p.E595A
c.1784A>C
1 paper
NM_000123.4
p.V590G
c.1769T>G
3 papers
NM_000123.4
p.V590I
c.1768G>A
1 paper
NM_000123.4
p.A596V
c.1787C>T
7 papers
NM_000123.4
p.V597L
c.1789G>C
6 papers
NM_000123.4
p.V597L
c.1789G>T
1 paper
NM_000123.4
p.V597A
c.1790T>C
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