Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.S835S

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
Selected Variant
27 papers
NM_005236.3
p.S835S
c.2505T>C
Surrounding Variants
1 paper
NM_005236.3
p.E836K
c.2506G>A
1 paper
NM_005236.3
p.E836E
c.2508A>G
1 paper
NM_005236.3
p.D834A
c.2501A>C
1 paper
NM_005236.3
p.T837I
c.2510C>T
1 paper
NM_005236.3
p.D834Y
c.2500G>T
1 paper
NM_005236.3
p.A833T
c.2497G>A
1 paper
NM_005236.3
p.P839T
c.2515C>A
2 papers
NM_005236.3
p.T832I
c.2495C>T
1 paper
NM_005236.3
p.P839L
c.2516C>T
3 papers
NM_005236.3
p.E840K
c.2518G>A
1 paper
NM_005236.3
p.T827A
c.2479A>G
1 paper
NM_005236.3
p.Y844C
c.2531A>G
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