Varaico: Literature-Extracted Genetic Variants

Gene:NWD2
Variant:p.K1053N

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.K1053N
c.3159G>C
Surrounding Variants
1 paper
NM_001144990.2
p.K1053N
c.3159G>T
1 paper
NM_001144990.2
p.L1034L
c.3100T>C
2 papers
NM_001144990.2
p.E1076K
c.3226G>A
1 paper
NM_001144990.2
p.D1020D
c.3060T>C
1 paper
NM_001144990.2
p.T1102M
c.3305C>T
1 paper
NM_001144990.2
p.T1102T
c.3306G>A
1 paper
NM_001144990.2
p.V1104I
c.3310G>A
1 paper
NM_001144990.2
p.L1151S
c.3452T>C
1 paper
NM_001144990.2
p.N1170T
c.3509A>C
1 paper
NM_001144990.2
p.D1182G
c.3545A>G
1 paper
NM_001144990.2
p.L914F
c.2740C>T
1 paper
NM_001144990.2
p.L892Q
c.2675T>A
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