Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.M113fs

XPA

461 papers

RefSeq Summary

This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts ...

Pfam Domains

XPA_Naa 102–133UCSCXPA protein N-terminal
XPA_Caa 135–186UCSCXPA protein C-terminus

Gene Aliases

HGNC Name

XPA, DNA damage recognition and repair factor

HGNC Alias Symbols

XPAC; XP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000380.4
p.M113fs
c.337_338fs
Surrounding Variants
1 paper
NM_000380.4
p.E111_F112del2
c.331_335del6
2 papers
NM_000380.4
p.F112_M113Fs
c.335_338delinsCATAAGAAAFs
4 papers
NM_000380.4
p.F112C
c.335T>G
1 paper
NM_000380.4
p.F112S
c.335T>C
3 papers
NM_000380.4
p.M113I
c.339G>T
3 papers
NM_000380.4
p.M113I
c.339G>C
3 papers
NM_000380.4
p.M113I
c.339G>A
1 paper
NM_000380.4
p.F112fs
c.334_335fs
3 papers
NM_000380.4
p.D114Y
c.340G>T
3 papers
NM_000380.4
p.D114N
c.340G>A
3 papers
NM_000380.4
p.M113delFs
c.338_339delCA
1 paper
NM_000380.4
p.D114G
c.341A>G
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