Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.H244R

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
17 papers
NM_000380.4
p.H244R
c.731A>G
Surrounding Variants
1 paper
NM_000380.4
p.Q243R
c.728A>G
2 papers
NM_000380.4
p.H242L
c.725A>T
3 papers
NM_000380.4
p.V241insFs
c.721dupG
3 papers
NM_000380.4
p.V241G
c.722T>G
1 paper
NM_000380.4
p.G247E
c.740G>A
1 paper
NM_000380.4
p.V241fs
c.721_722fs
1 paper
NM_000380.4
p.P248T
c.742C>A
1 paper
NM_000380.4
p.P248L
c.743C>T
5 papers
NM_000380.4
p.L252V
c.754C>G
1 paper
NM_000380.4
p.L252fs
c.754_755fs
2 papers
NM_000380.4
p.W235*
c.705G>A
2 papers
NM_000380.4
p.W235*
c.704G>A
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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."