Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.L226W

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.L226W
c.677T>G
Surrounding Variants
1 paper
NM_000380.4
p.R227W
c.679C>T
1 paper
NM_000380.4
p.E225fs
c.673_674fs
2 papers
NM_000380.4
p.E225Q
c.673G>C
47 papers
NM_000380.4
p.R228*
c.682C>T
1 paper
NM_000380.4
p.R228G
c.682C>G
19 papers
NM_000380.4
p.R228Q
c.683G>A
5 papers
NM_000380.4
p.V230_R231insFs
c.690_691insT
1 paper
NM_000380.4
p.R231delFs
c.691delT
1 paper
NM_000380.4
p.R231fs
c.691_692fs
7 papers
NM_000380.4
p.V234L
c.700G>T
7 papers
NM_000380.4
p.V234L
c.700G>C
1 paper
NM_000380.4
p.V234M
c.700G>A
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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."