Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.L252fs

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.L252fs
c.754_755fs
Surrounding Variants
5 papers
NM_000380.4
p.L252V
c.754C>G
1 paper
NM_000380.4
p.E253D
c.759A>T
1 paper
NM_000380.4
p.E253D
c.759A>C
1 paper
NM_000380.4
p.D254N
c.760G>A
1 paper
NM_000380.4
p.E250_L252del3
c.748_755del9
1 paper
NM_000380.4
p.D255G
c.764A>G
2 papers
NM_000380.4
p.M256V
c.766A>G
1 paper
NM_000380.4
p.M256I
c.768G>T
1 paper
NM_000380.4
p.M256I
c.768G>C
1 paper
NM_000380.4
p.M256I
c.768G>A
1 paper
NM_000380.4
p.P248L
c.743C>T
1 paper
NM_000380.4
p.P248T
c.742C>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."