Varaico: Literature-Extracted Genetic Variants

Gene:NWD2
Variant:p.I1331V

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.I1331V
c.3991A>G
Surrounding Variants
1 paper
NM_001144990.2
p.S1293T
c.3877T>A
1 paper
NM_001144990.2
p.R1261Q
c.3782G>A
1 paper
NM_001144990.2
p.Q1402L
c.4205A>T
1 paper
NM_001144990.2
p.D1244Y
c.3730G>T
1 paper
NM_001144990.2
p.E1232K
c.3694G>A
1 paper
NM_001144990.2
p.D1182G
c.3545A>G
1 paper
NM_001144990.2
p.N1170T
c.3509A>C
1 paper
NM_001144990.2
p.L1508L
c.4522C>T
1 paper
NM_001144990.2
p.L1151S
c.3452T>C
1 paper
NM_001144990.2
p.R1516S
c.4546C>A
1 paper
NM_001144990.2
p.N1522_L1524delFs
c.4566_4572del7
1 paper
NM_001144990.2
p.V1104I
c.3310G>A
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