Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.Y270H

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.Y270H
c.808T>C
Surrounding Variants
1 paper
NM_000380.4
p.L268L
c.802C>T
1 paper
NM_000380.4
p.L268_T269insA
c.802_806ins3
3 papers
NM_000380.4
p.L268_T269insAA
c.802_806ins6
1 paper
NM_000380.4
p.K272N
c.816A>T
1 paper
NM_000380.4
p.K272N
c.816A>C
1 paper
NM_000380.4
p.M273delFs
c.817delT
1 paper
NM_000380.4
p.M273fs
c.817_818fs
1 paper
NM_000380.4
p.*274G
c.820T>G
1 paper
NM_000380.4
p.G265G
c.795C>T
5 papers
NM_000380.4
p.C264S
c.791G>C
5 papers
NM_000380.4
p.C264S
c.790T>A
13 papers
NM_000380.4
p.R258_T262delFs
c.772_785del14
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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."