Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.K221Q

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.K221Q
c.661A>C
Surrounding Variants
3 papers
NM_000380.4
p.K221E
c.661A>G
1 paper
NM_000380.4
p.K221N
c.663A>T
1 paper
NM_000380.4
p.K221N
c.663A>C
4 papers
NM_000380.4
p.K222E
c.664A>G
1 paper
NM_000380.4
p.K222R
c.665A>G
2 papers
NM_000380.4
p.K218delFs
c.654delT
3 papers
NM_000380.4
p.K222insFs
c.664_665insA
1 paper
NM_000380.4
p.V223I
c.667G>A
1 paper
NM_000380.4
p.K221delFs
c.662delT
1 paper
NM_000380.4
p.V223fs
c.667_668fs
1 paper
NM_000380.4
p.K224insFs
c.670_671insT
1 paper
NM_000380.4
p.K218fs
c.652_653fs
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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."