Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.L43L

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
2 papers
NM_000380.4
p.L43L
c.127C>T
Surrounding Variants
1 paper
NM_000380.4
p.R42R
c.126G>T
1 paper
NM_000380.4
p.A44D
c.131C>A
3 papers
NM_000380.4
p.A41V
c.122C>T
1 paper
NM_000380.4
p.Q40H
c.120G>T
1 paper
NM_000380.4
p.Q40H
c.120G>C
1 paper
NM_000380.4
p.Q40*
c.118C>T
1 paper
NM_000380.4
p.L38_R39delFs
c.113_117del5
1 paper
NM_000380.4
p.P47S
c.139C>T
1 paper
NM_000380.4
p.L38fs
c.112_113fs
1 paper
NM_000380.4
p.M37_L38delFs
c.111_112delGC
1 paper
NM_000380.4
p.Y48H
c.142T>C
2 papers
NM_000380.4
p.Y48N
c.142T>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."