Varaico: Literature-Extracted Genetic Variants

Gene:NWD2
Variant:p.Y718*

NWD2

80 papers

Pfam Domains

WHD_NWD1aa 627–753UCSCNWD1-like, winged helix-turn-helix domain
Beta-prop_NWD2_Caa 1309–1645UCSCNWD2 C-terminal beta-propeller

Gene Aliases

HGNC Name

NACHT and WD repeat domain containing 2

HGNC Previous Symbol

KIAA1239

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144990.2
p.Y718*
c.2154C>A
Surrounding Variants
1 paper
NM_001144990.2
p.Y718*
c.2154C>G
1 paper
NM_001144990.2
p.G717R
c.2149G>A
1 paper
NM_001144990.2
p.G717R
c.2149G>C
1 paper
NM_001144990.2
p.K725delFs
c.2173delA
1 paper
NM_001144990.2
p.K725fs
c.2173_2174fs
1 paper
NM_001144990.2
p.R753H
c.2258G>A
1 paper
NM_001144990.2
p.T757S
c.2269A>T
1 paper
NM_001144990.2
p.T757S
c.2270C>G
1 paper
NM_001144990.2
p.L764Q
c.2291T>A
1 paper
NM_001144990.2
p.G769R
c.2305G>A
1 paper
NM_001144990.2
p.G769R
c.2305G>C
1 paper
NM_001144990.2
p.A661T
c.1981G>A
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