Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.Q185del1

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.Q185del1
c.553_554delCTG
Surrounding Variants
1 paper
NM_000380.4
p.Q185_I186Splc
c.555+1G>A
11 papers
NM_000380.4
p.Q185H
c.555G>T
13 papers
NM_000380.4
p.Q185H
c.555G>C
1 paper
NM_000380.4
p.K183_Q185Fs
c.547_555delinsTTAAATAFs
11 papers
NM_000380.4
p.Q185*
c.553C>T
14 papers
NM_000380.4
p.Q185_I186Splc
c.555+8A>G
3 papers
NM_000380.4
p.K183*
c.547A>T
3 papers
NM_000380.4
p.L182insFs
c.545_546insTA
1 paper
NM_000380.4
p.L182fs
c.544_545fs
1 paper
NM_000380.4
p.Y181fs
c.541_542fs
1 paper
NM_000380.4
p.L180L
c.540C>T
1 paper
NM_000380.4
p.L180F
c.538C>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."