Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.D376N

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.D376N
c.1126G>A
Surrounding Variants
1 paper
NM_000107.3
p.G377E
c.1130G>A
2 papers
NM_000107.3
p.G380delFs
c.1138delG
1 paper
NM_000107.3
p.T371T
c.1113G>A
1 paper
NM_000107.3
p.T371M
c.1112C>T
4 papers
NM_000107.3
p.K381fs
c.1141_1142fs
5 papers
NM_000107.3
p.M383fs
c.1147_1148fs
3 papers
NM_000107.3
p.M383delFs
c.1149delG
1 paper
NM_000107.3
p.T365N
c.1094C>A
1 paper
NM_000107.3
p.D388N
c.1162G>A
1 paper
NM_000107.3
p.E390D
c.1170A>C
1 paper
NM_000107.3
p.E390D
c.1170A>T
1 paper
NM_000107.3
p.S391insFs
c.1173dupT
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