Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.E159fs

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.E159fs
c.475_476fs
Surrounding Variants
2 papers
NM_000380.4
p.E159delFs
c.476_477delCT
1 paper
NM_000380.4
p.E159A
c.476A>C
1 paper
NM_000380.4
p.R158fs
c.472_473fs
3 papers
NM_000380.4
p.R158insFs
c.472dupA
2 papers
NM_000380.4
p.K157_R158delFs
c.471_472delTT
1 paper
NM_000380.4
p.P161L
c.482C>T
1 paper
NM_000380.4
p.R158fs
c.472_473fs
1 paper
NM_000380.4
p.P161fs
c.481_482fs
1 paper
NM_000380.4
p.P161delFs
c.482delG
1 paper
NM_000380.4
p.L162V
c.484C>G
1 paper
NM_000380.4
p.K157fs
c.469_470fs
1 paper
NM_000380.4
p.E156Q
c.466G>C
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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."