Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHA
Variant:p.R124P

SOWAHA

38 papers

Pfam Domains

WHD_SOWAHaa 13–93UCSCSOWAH N-terminal winged helix-turn-helix domain
Ank_2aa 325–416UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

sosondowah ankyrin repeat domain family member A

HGNC Previous Symbol

ANKRD43

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_175873.6
p.R124P
c.371G>C
Surrounding Variants
1 paper
NM_175873.6
p.A116P
c.346G>C
1 paper
NM_175873.6
p.P105S
c.313C>T
1 paper
NM_175873.6
p.P145T
c.433C>A
1 paper
NM_175873.6
p.P145fs
c.433_434fs
3 papers
NM_175873.6
p.G147delFs
c.441delG
1 paper
NM_175873.6
p.P102S
c.304C>T
1 paper
NM_175873.6
p.G147R
c.439G>C
2 papers
NM_175873.6
p.G147fs
c.439_440fs
1 paper
NM_175873.6
p.Q101L
c.302A>T
1 paper
NM_175873.6
p.P148A
c.442C>G
1 paper
NM_175873.6
p.P148fs
c.442_443fs
1 paper
NM_175873.6
p.A98E
c.293C>A
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