Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.K213I

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.K213I
c.638A>T
Surrounding Variants
1 paper
NM_000380.4
p.M214fs
c.640_641fs
4 papers
NM_000380.4
p.M214insFs
c.640dupA
2 papers
NM_000380.4
p.M214K
c.641T>A
4 papers
NM_000380.4
p.M214fs
c.640_641fs
1 paper
NM_000380.4
p.E212K
c.634G>A
1 paper
NM_000380.4
p.K215Q
c.643A>C
13 papers
NM_000380.4
p.R211*
c.631C>T
3 papers
NM_000380.4
p.Q216*
c.646C>T
1 paper
NM_000380.4
p.Q216E
c.646C>G
1 paper
NM_000380.4
p.M214_K215insFs
c.642_645dup4
1 paper
NM_000380.4
p.Q216delFs
c.647delT
2 papers
NM_000380.4
p.K217fs
c.649_650fs
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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."