Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.S262A

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.S262A
c.784T>G
Surrounding Variants
1 paper
NM_000107.3
p.A261S
c.781G>T
1 paper
NM_000107.3
p.D264H
c.790G>C
1 paper
NM_000107.3
p.D264A
c.791A>C
1 paper
NM_000107.3
p.Q265*
c.793C>T
1 paper
NM_000107.3
p.T266A
c.796A>G
1 paper
NM_000107.3
p.F257L
c.771C>A
1 paper
NM_000107.3
p.F257L
c.771C>G
1 paper
NM_000107.3
p.T266_V267delFs
c.798_799delAG
1 paper
NM_000107.3
p.V267delFs
c.799_800delGT
1 paper
NM_000107.3
p.V267fs
c.799_800fs
1 paper
NM_000107.3
p.F257L
c.769T>C
1 paper
NM_000107.3
p.V267A
c.800T>C
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