Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.R420S

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.R420S
c.1258C>A
Surrounding Variants
2 papers
NM_000123.4
p.R420H
c.1259G>A
2 papers
NM_000123.4
p.M419V
c.1255A>G
1 paper
NM_000123.4
p.E418*
c.1252G>T
1 paper
NM_000123.4
p.A416insFs
c.1248dupA
1 paper
NM_000123.4
p.S424T
c.1270T>A
1 paper
NM_000123.4
p.S424Y
c.1271C>A
1 paper
NM_000123.4
p.S424F
c.1271C>T
2 papers
NM_000123.4
p.T425A
c.1273A>G
1 paper
NM_000123.4
p.P414R
c.1241C>G
1 paper
NM_000123.4
p.P414L
c.1241C>T
1 paper
NM_000123.4
p.P414S
c.1240C>T
2 papers
NM_000123.4
p.E426K
c.1276G>A
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