Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.R130Splc

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
34 papers
NM_000380.4
p.R130Splc
c.390-1G>C
Surrounding Variants
8 papers
NM_000380.4
p.R130I
c.389G>T
8 papers
NM_000380.4
p.R130K
c.389G>A
2 papers
NM_000380.4
p.R130G
c.388A>G
1 paper
NM_000380.4
p.D131G
c.392A>G
1 paper
NM_000380.4
p.D133N
c.397G>A
1 paper
NM_000380.4
p.D134H
c.400G>C
4 papers
NM_000380.4
p.R130Splc
c.390-12A>G
1 paper
NM_000380.4
p.D134G
c.401A>G
1 paper
NM_000380.4
p.H136Y
c.406C>T
1 paper
NM_000380.4
p.L138R
c.413T>G
5 papers
NM_000380.4
p.K141E
c.421A>G
1 paper
NM_000380.4
p.K141Q
c.421A>C
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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."