Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.R192*

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
8 papers
NM_000107.3
p.R192*
c.574C>T
Surrounding Variants
1 paper
NM_000107.3
p.L191V
c.571C>G
1 paper
NM_000107.3
p.V193I
c.577G>A
1 paper
NM_000107.3
p.V193A
c.578T>C
1 paper
NM_000107.3
p.A195D
c.584C>A
1 paper
NM_000107.3
p.S197*
c.590C>A
1 paper
NM_000107.3
p.S197*
c.590C>G
1 paper
NM_000107.3
p.D185G
c.554A>G
1 paper
NM_000107.3
p.E178*
c.532G>T
4 papers
NM_000107.3
p.Q171E
c.511C>G
1 paper
NM_000107.3
p.Q171*
c.511C>T
1 paper
NM_000107.3
p.N168S
c.503A>G
1 paper
NM_000107.3
p.K163fs
c.487_488fs
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