Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.R313Q

DDB2

299 papers

RefSeq Summary

This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide ex...

Pfam Domains

WD40aa 232–271UCSCWD domain, G-beta repeat
WD40aa 279–316UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

damage specific DNA binding protein 2

HGNC Alias Symbols

DDBB; UV-DDB2; FLJ34321; XPE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000107.3
p.R313Q
c.938G>A
Surrounding Variants
9 papers
NM_000107.3
p.R313*
c.937C>T
1 paper
NM_000107.3
p.E311K
c.931G>A
2 papers
NM_000107.3
p.S316F
c.947C>T
2 papers
NM_000107.3
p.K309R
c.926A>G
1 paper
NM_000107.3
p.Q319R
c.956A>G
1 paper
NM_000107.3
p.D307N
c.919G>A
12 papers
NM_000107.3
p.D307Y
c.919G>T
2 papers
NM_000107.3
p.T306T
c.918G>A
4 papers
NM_000107.3
p.T305N
c.914C>A
1 paper
NM_000107.3
p.L303F
c.907C>T
1 paper
NM_000107.3
p.R302P
c.905G>C
1 paper
NM_000107.3
p.G325_P328del0
c.973_984del12
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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."