Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.R207*

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
26 papers
NM_000380.4
p.R207*
c.619C>T
Surrounding Variants
10 papers
NM_000380.4
p.R207G
c.619C>G
3 papers
NM_000380.4
p.R207Q
c.620G>A
1 paper
NM_000380.4
p.V206V
c.618C>A
5 papers
NM_000380.4
p.Q208*
c.622C>T
1 paper
NM_000380.4
p.Q208R
c.623A>G
1 paper
NM_000380.4
p.E205A
c.614A>C
3 papers
NM_000380.4
p.K204E
c.610A>G
1 paper
NM_000380.4
p.E201_A203delFs
c.603_607del5
13 papers
NM_000380.4
p.R211*
c.631C>T
1 paper
NM_000380.4
p.E202E
c.606A>G
1 paper
NM_000380.4
p.E201_E202delFs
c.601_605del5
1 paper
NM_000380.4
p.E202G
c.605A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."