Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.Q335Fs

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
1 paper
NM_000107.3
p.Q335Fs
c.1003delinsGAFs
Surrounding Variants
1 paper
NM_000107.3
p.Q335*
c.1003C>T
1 paper
NM_000107.3
p.Q335fs
c.1003_1004fs
1 paper
NM_000107.3
p.F334V
c.1000T>G
1 paper
NM_000107.3
p.H336H
c.1008C>T
1 paper
NM_000107.3
p.T338_P339ins7
c.1012_1016ins21
2 papers
NM_000107.3
p.T338P
c.1012A>C
7 papers
NM_000107.3
p.T338I
c.1013C>T
2 papers
NM_000107.3
p.K341del1
c.1021_1022delAAG
1 paper
NM_000107.3
p.P328P
c.984G>A
1 paper
NM_000107.3
p.G325_P328del0
c.973_984del12
1 paper
NM_000107.3
p.Q319R
c.956A>G
2 papers
NM_000107.3
p.S316F
c.947C>T
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