Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.L155*

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.L155*
c.464T>A
Surrounding Variants
1 paper
NM_000380.4
p.L155*
c.464T>G
1 paper
NM_000380.4
p.L155delFs
c.464delA
1 paper
NM_000380.4
p.D154D
c.462T>C
1 paper
NM_000380.4
p.E156Q
c.466G>C
2 papers
NM_000380.4
p.D154A
c.461A>C
1 paper
NM_000380.4
p.C153_D154delFs
c.459_460delCA
1 paper
NM_000380.4
p.D154H
c.460G>C
1 paper
NM_000380.4
p.D154N
c.460G>A
1 paper
NM_000380.4
p.C153delFs
c.459delA
1 paper
NM_000380.4
p.C153*
c.459T>A
1 paper
NM_000380.4
p.K157fs
c.469_470fs
3 papers
NM_000380.4
p.C153S
c.458G>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."