Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.R30Q

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.R30Q
c.89G>A
Surrounding Variants
2 papers
NM_000380.4
p.R30W
c.88C>T
1 paper
NM_000380.4
p.R30R
c.88C>A
2 papers
NM_000380.4
p.K31E
c.91A>G
1 paper
NM_000380.4
p.K31R
c.92A>G
1 paper
NM_000380.4
p.I28M
c.84C>G
1 paper
NM_000380.4
p.Q33K
c.97C>A
1 paper
NM_000380.4
p.S27R
c.79A>C
1 paper
NM_000380.4
p.S23del1
c.67_68delCGA
1 paper
NM_000380.4
p.L38L
c.112C>T
1 paper
NM_000380.4
p.M37_L38delFs
c.111_112delGC
1 paper
NM_000380.4
p.L38fs
c.112_113fs
1 paper
NM_000380.4
p.P21S
c.61C>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."