Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4

ERCC4

906 papers

RefSeq Summary

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that...

Pfam Domains

ERCC4aa 686–816UCSCERCC4 domain

Gene Aliases

HGNC Name

ERCC excision repair 4, endonuclease catalytic subunit

HGNC Previous Symbol

XPF

Papers
RefSeq ID
Protein change
DNA change
1–12 of 1084 variants
105 papers
NM_005236.3
p.R415Q
c.1244G>A
72 papers
NM_005236.3
p.R799W
c.2395C>T
47 papers
NM_005236.3
p.P379S
c.1135C>T
29 papers
NM_005236.3
p.R589W
c.1765C>T
27 papers
NM_005236.3
p.S835S
c.2505T>C
22 papers
NM_005236.3
p.E875G
c.2624A>G
21 papers
NM_005236.3
p.R153P
c.458G>C
21 papers
NM_005236.3
p.R689S
c.2065C>A
20 papers
NM_005236.3
p.C236R
c.706T>C
16 papers
NM_005236.3
p.S662P
c.1984T>C
16 papers
NM_005236.3
p.I706T
c.2117T>C
14 papers
NM_005236.3
p.S521R
c.1563C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."