Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.R497S

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.R497S
c.1491A>T
Surrounding Variants
1 paper
NM_000123.4
p.R497S
c.1491A>C
1 paper
NM_000123.4
p.R497K
c.1490G>A
3 papers
NM_000123.4
p.K498delFs
c.1494delA
1 paper
NM_000123.4
p.D499fs
c.1495_1496fs
1 paper
NM_000123.4
p.D499fs
c.1495_1496fs
1 paper
NM_000123.4
p.K495R
c.1484A>G
1 paper
NM_000123.4
p.R500W
c.1498C>T
1 paper
NM_000123.4
p.R500Q
c.1499G>A
1 paper
NM_000123.4
p.I494V
c.1480A>G
1 paper
NM_000123.4
p.M493L
c.1477A>C
1 paper
NM_000123.4
p.M493V
c.1477A>G
1 paper
NM_000123.4
p.M493L
c.1477A>T
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