Varaico: Literature-Extracted Genetic Variants

Gene:DDB2
Variant:p.V353delFs

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.V353delFs
c.1058delT
Surrounding Variants
1 paper
NM_000107.3
p.V353fs
c.1057_1058fs
1 paper
NM_000107.3
p.I351I
c.1053T>C
2 papers
NM_000107.3
p.R355*
c.1063C>T
1 paper
NM_000107.3
p.I351del1
c.1051_1052delATT
1 paper
NM_000107.3
p.R355Q
c.1064G>A
1 paper
NM_000107.3
p.L350H
c.1049T>A
17 papers
NM_000107.3
p.L350P
c.1049T>C
3 papers
NM_000107.3
p.P357L
c.1070C>T
4 papers
NM_000107.3
p.N349del1
c.1045_1046delAAC
1 paper
NM_000107.3
p.R347H
c.1040G>A
1 paper
NM_000107.3
p.H345Y
c.1033C>T
2 papers
NM_000107.3
p.A343P
c.1027G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."