Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHB
Variant:p.P490S

SOWAHB

37 papers

Pfam Domains

WHD_SOWAHaa 4–93UCSCSOWAH N-terminal winged helix-turn-helix domain
Ank_2aa 609–725UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

sosondowah ankyrin repeat domain family member B

HGNC Previous Symbol

ANKRD56

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001029870.3
p.P490S
c.1468C>T
Surrounding Variants
1 paper
NM_001029870.3
p.P490fs
c.1468_1469fs
1 paper
NM_001029870.3
p.L458L
c.1374C>T
1 paper
NM_001029870.3
p.Q456*
c.1366C>T
1 paper
NM_001029870.3
p.R446Q
c.1337G>A
1 paper
NM_001029870.3
p.A538T
c.1612G>A
1 paper
NM_001029870.3
p.K434fs
c.1300_1301fs
1 paper
NM_001029870.3
p.G433insFs
c.1299dupG
1 paper
NM_001029870.3
p.E560K
c.1678G>A
1 paper
NM_001029870.3
p.G562D
c.1685G>A
1 paper
NM_001029870.3
p.S409G
c.1225A>G
1 paper
NM_001029870.3
p.E401*
c.1201G>T
1 paper
NM_001029870.3
p.S584F
c.1751C>T
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