Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.W54*

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
5 papers
NM_000107.3
p.W54*
c.161G>A
Surrounding Variants
1 paper
NM_000107.3
p.W54L
c.161G>T
5 papers
NM_000107.3
p.W54*
c.162G>A
1 paper
NM_000107.3
p.L53P
c.158T>C
1 paper
NM_000107.3
p.S50*
c.149C>A
1 paper
NM_000107.3
p.C48S
c.142T>A
1 paper
NM_000107.3
p.Q61L
c.182A>T
1 paper
NM_000107.3
p.R47del1
c.139_140delAGA
1 paper
NM_000107.3
p.P64S
c.190C>T
1 paper
NM_000107.3
p.R71R
c.213G>A
1 paper
NM_000107.3
p.H74L
c.221A>T
1 paper
NM_000107.3
p.K77_R80delFs
c.230_239del10
2 papers
NM_000107.3
p.K77R
c.230A>G
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