Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.Y148D

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
3 papers
NM_000380.4
p.Y148D
c.442T>G
Surrounding Variants
1 paper
NM_000380.4
p.Q146_Y148del0
c.438_443del6
1 paper
NM_000380.4
p.Q146insFs
c.437dupA
3 papers
NM_000380.4
p.K151*
c.451A>T
2 papers
NM_000380.4
p.K151E
c.451A>G
2 papers
NM_000380.4
p.K145E
c.433A>G
1 paper
NM_000380.4
p.K151R
c.452A>G
1 paper
NM_000380.4
p.A144delFs
c.430_431delGC
1 paper
NM_000380.4
p.E143delFs
c.428_429delCT
3 papers
NM_000380.4
p.C153S
c.457T>A
1 paper
NM_000380.4
p.E143K
c.427G>A
3 papers
NM_000380.4
p.C153S
c.458G>C
1 paper
NM_000380.4
p.C153*
c.459T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."