Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.Y181fs

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.Y181fs
c.541_542fs
Surrounding Variants
1 paper
NM_000380.4
p.L180L
c.540C>T
1 paper
NM_000380.4
p.L180F
c.538C>T
1 paper
NM_000380.4
p.L182fs
c.544_545fs
1 paper
NM_000380.4
p.K179T
c.536A>C
3 papers
NM_000380.4
p.K183*
c.547A>T
5 papers
NM_000380.4
p.K179E
c.535A>G
1 paper
NM_000380.4
p.K179Q
c.535A>C
3 papers
NM_000380.4
p.L182insFs
c.545_546insTA
1 paper
NM_000380.4
p.M178insFs
c.532dupA
1 paper
NM_000380.4
p.M178V
c.532A>G
4 papers
NM_000380.4
p.D177N
c.529G>A
11 papers
NM_000380.4
p.Q185*
c.553C>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."