Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.L200*

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.L200*
c.599T>A
Surrounding Variants
1 paper
NM_000380.4
p.L200*
c.599T>G
2 papers
NM_000380.4
p.E201K
c.601G>A
2 papers
NM_000380.4
p.E201fs
c.601_602fs
1 paper
NM_000380.4
p.A199V
c.596C>T
1 paper
NM_000380.4
p.E201A
c.602A>C
1 paper
NM_000380.4
p.A199T
c.595G>A
1 paper
NM_000380.4
p.E202G
c.605A>G
2 papers
NM_000380.4
p.E202A
c.605A>C
1 paper
NM_000380.4
p.E198A
c.593A>C
1 paper
NM_000380.4
p.E202E
c.606A>G
1 paper
NM_000380.4
p.E201_E202delFs
c.601_605del5
1 paper
NM_000380.4
p.E201_A203delFs
c.603_607del5
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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."