Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.G6E

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.G6E
c.17G>A
Surrounding Variants
1 paper
NM_000380.4
p.G6insFs
c.16_17insA
1 paper
NM_000380.4
p.G6R
c.16G>C
1 paper
NM_000380.4
p.G6R
c.16G>A
1 paper
NM_000380.4
p.A7fs
c.19_20fs
1 paper
NM_000380.4
p.A7G
c.20C>G
1 paper
NM_000380.4
p.A7insFs
c.19_20insG
1 paper
NM_000380.4
p.A7delFs
c.19delC
1 paper
NM_000380.4
p.D5G
c.14A>G
2 papers
NM_000380.4
p.A7delFs
c.20delG
1 paper
NM_000380.4
p.D5Y
c.13G>T
1 paper
NM_000380.4
p.L8insFs
c.23dupT
3 papers
NM_000380.4
p.P9S
c.25C>T
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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."