Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.R258fs

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
5 papers
NM_000380.4
p.R258fs
c.772_773fs
Surrounding Variants
6 papers
NM_000380.4
p.R258C
c.772C>T
2 papers
NM_000380.4
p.R258fs
c.772_773fs
1 paper
NM_000380.4
p.K259*
c.775A>T
1 paper
NM_000380.4
p.R258insFs
c.774dupT
1 paper
NM_000380.4
p.M256I
c.768G>T
1 paper
NM_000380.4
p.M256I
c.768G>C
1 paper
NM_000380.4
p.M256I
c.768G>A
1 paper
NM_000380.4
p.K259fs
c.775_776fs
1 paper
NM_000380.4
p.T260fs
c.778_779fs
2 papers
NM_000380.4
p.M256V
c.766A>G
1 paper
NM_000380.4
p.T260Fs
c.779delinsTTCTTFs
3 papers
NM_000380.4
p.T260insFs
c.779_780insTT
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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."