Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.K110E

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
4 papers
NM_000380.4
p.K110E
c.328A>G
Surrounding Variants
1 paper
NM_000380.4
p.G109E
c.326G>A
17 papers
NM_000380.4
p.E111*
c.331G>T
1 paper
NM_000380.4
p.E111Q
c.331G>C
4 papers
NM_000380.4
p.E111K
c.331G>A
1 paper
NM_000380.4
p.C108fs
c.322_323fs
1 paper
NM_000380.4
p.C108*
c.324T>A
3 papers
NM_000380.4
p.E111A
c.332A>C
12 papers
NM_000380.4
p.C108F
c.323G>T
2 papers
NM_000380.4
p.C108Y
c.323G>A
1 paper
NM_000380.4
p.C108delFs
c.322delA
1 paper
NM_000380.4
p.E107_C108insFs
c.321_322insAA
1 paper
NM_000380.4
p.F112fs
c.334_335fs
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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."