Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.E399V

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
2 papers
NM_000123.4
p.E399V
c.1196A>T
Surrounding Variants
1 paper
NM_000123.4
p.E399K
c.1195G>A
1 paper
NM_000123.4
p.D400Y
c.1198G>T
1 paper
NM_000123.4
p.D398G
c.1193A>G
1 paper
NM_000123.4
p.D398Y
c.1192G>T
1 paper
NM_000123.4
p.D397E
c.1191T>A
1 paper
NM_000123.4
p.D397E
c.1191T>G
2 papers
NM_000123.4
p.D397N
c.1189G>A
1 paper
NM_000123.4
p.K402E
c.1204A>G
1 paper
NM_000123.4
p.D396G
c.1187A>G
1 paper
NM_000123.4
p.K402R
c.1205A>G
1 paper
NM_000123.4
p.V403delFs
c.1209delG
1 paper
NM_000123.4
p.R393R
c.1179A>G
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