Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHB
Variant:p.V252_P253insFs

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.V252_P253insFs
c.756_757insG
Surrounding Variants
1 paper
NM_001029870.3
p.V252fs
c.754_755fs
1 paper
NM_001029870.3
p.V255M
c.763G>A
1 paper
NM_001029870.3
p.A250T
c.748G>A
1 paper
NM_001029870.3
p.P291S
c.871C>T
2 papers
NM_001029870.3
p.P291A
c.871C>G
1 paper
NM_001029870.3
p.H295_Q300del0
c.885_899del15
1 paper
NM_001029870.3
p.S329L
c.986C>T
1 paper
NM_001029870.3
p.E371K
c.1111G>A
1 paper
NM_001029870.3
p.A374V
c.1121C>T
2 papers
NM_001029870.3
p.P377T
c.1129C>A
1 paper
NM_001029870.3
p.R383H
c.1148G>A
1 paper
NM_001029870.3
p.E114fs
c.340_341fs
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