Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E585fs

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.E585fs
c.1753_1754fs
Surrounding Variants
5 papers
NM_000123.4
p.E585*
c.1753G>T
2 papers
NM_000123.4
p.S588I
c.1763G>T
1 paper
NM_000123.4
p.P580A
c.1738C>G
1 paper
NM_000123.4
p.P580S
c.1738C>T
3 papers
NM_000123.4
p.V590I
c.1768G>A
1 paper
NM_000123.4
p.V590G
c.1769T>G
1 paper
NM_000123.4
p.G579V
c.1736G>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.P593T
c.1777C>A
1 paper
NM_000123.4
p.P593S
c.1777C>T
1 paper
NM_000123.4
p.P593H
c.1778C>A
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