Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.S505R

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.S505R
c.1515T>G
Surrounding Variants
1 paper
NM_000123.4
p.S505R
c.1515T>A
1 paper
NM_000123.4
p.S505R
c.1513A>C
1 paper
NM_000123.4
p.E504G
c.1511A>G
1 paper
NM_000123.4
p.V507A
c.1520T>C
1 paper
NM_000123.4
p.V508F
c.1522G>T
1 paper
NM_000123.4
p.L503V
c.1507C>G
1 paper
NM_000123.4
p.H510Y
c.1528C>T
1 paper
NM_000123.4
p.R500Q
c.1499G>A
1 paper
NM_000123.4
p.R500W
c.1498C>T
1 paper
NM_000123.4
p.D499fs
c.1495_1496fs
1 paper
NM_000123.4
p.D499fs
c.1495_1496fs
4 papers
NM_000123.4
p.A513T
c.1537G>A
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