Varaico: Literature-Extracted Genetic Variants

Gene:NWD2
Variant:p.F346L

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
2 papers
NM_001144990.2
p.F346L
c.1038T>A
Surrounding Variants
2 papers
NM_001144990.2
p.F346L
c.1038T>G
2 papers
NM_001144990.2
p.F346L
c.1036T>C
1 paper
NM_001144990.2
p.Q345K
c.1033C>A
1 paper
NM_001144990.2
p.I353T
c.1058T>C
1 paper
NM_001144990.2
p.D291N
c.871G>A
1 paper
NM_001144990.2
p.R290Q
c.869G>A
1 paper
NM_001144990.2
p.R268C
c.802C>T
2 papers
NM_001144990.2
p.V451M
c.1351G>A
1 paper
NM_001144990.2
p.D458N
c.1372G>A
1 paper
NM_001144990.2
p.E502G
c.1505A>G
2 papers
NM_001144990.2
p.I512V
c.1534A>G
1 paper
NM_001144990.2
p.L546M
c.1636C>A
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