Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.S428R

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.S428R
c.1284T>G
Surrounding Variants
1 paper
NM_000123.4
p.S428R
c.1284T>A
1 paper
NM_000123.4
p.S428I
c.1283G>T
1 paper
NM_000123.4
p.D429ins2
c.1286_1287ins6
1 paper
NM_000123.4
p.S428R
c.1282A>C
1 paper
NM_000123.4
p.D429A
c.1286A>C
1 paper
NM_000123.4
p.D429D
c.1287T>C
2 papers
NM_000123.4
p.E426K
c.1276G>A
2 papers
NM_000123.4
p.T425A
c.1273A>G
1 paper
NM_000123.4
p.K433*
c.1297A>T
1 paper
NM_000123.4
p.S424Y
c.1271C>A
1 paper
NM_000123.4
p.S424F
c.1271C>T
5 papers
NM_000123.4
p.K433T
c.1298A>C
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