Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.S449F

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.S449F
c.1346C>T
Surrounding Variants
3 papers
NM_000123.4
p.S448*
c.1343C>A
3 papers
NM_000123.4
p.S448*
c.1343C>G
2 papers
NM_000123.4
p.S448L
c.1343C>T
1 paper
NM_000123.4
p.V451insFs
c.1351dupG
2 papers
NM_000123.4
p.A447V
c.1340C>T
1 paper
NM_000123.4
p.N452Y
c.1354A>T
1 paper
NM_000123.4
p.S453delFs
c.1358_1359delCT
2 papers
NM_000123.4
p.S453C
c.1358C>G
1 paper
NM_000123.4
p.A454P
c.1360G>C
1 paper
NM_000123.4
p.A454V
c.1361C>T
1 paper
NM_000123.4
p.E456G
c.1367A>G
1 paper
NM_000123.4
p.H457N
c.1369C>A
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