Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.Y102_V103delFs

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.Y102_V103delFs
c.306_309del4
Surrounding Variants
1 paper
NM_000380.4
p.Y102*
c.306T>G
1 paper
NM_000380.4
p.Y102*
c.306T>A
5 papers
NM_000380.4
p.C105Y
c.314G>A
1 paper
NM_000380.4
p.C105*
c.315C>A
3 papers
NM_000380.4
p.E106K
c.316G>A
1 paper
NM_000380.4
p.E106G
c.317A>G
1 paper
NM_000380.4
p.E106A
c.317A>C
1 paper
NM_000380.4
p.D101A
c.302A>C
3 papers
NM_000380.4
p.D101N
c.301G>A
1 paper
NM_000380.4
p.E107A
c.320A>C
1 paper
NM_000380.4
p.E107_C108insFs
c.321_322insAA
1 paper
NM_000380.4
p.E107del1
c.319_320delTTC
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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."