Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHA
Variant:p.S248I

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
1 paper
NM_175873.6
p.S248I
c.743G>T
Surrounding Variants
1 paper
NM_175873.6
p.R258W
c.772C>T
1 paper
NM_175873.6
p.P237P
c.711C>G
1 paper
NM_175873.6
p.P237S
c.709C>T
1 paper
NM_175873.6
p.R233W
c.697C>T
1 paper
NM_175873.6
p.L268L
c.804C>T
1 paper
NM_175873.6
p.P225S
c.673C>T
1 paper
NM_175873.6
p.G273S
c.817G>A
1 paper
NM_175873.6
p.G273D
c.818G>A
1 paper
NM_175873.6
p.C223F
c.668G>T
1 paper
NM_175873.6
p.L281P
c.842T>C
1 paper
NM_175873.6
p.R283P
c.848G>C
1 paper
NM_175873.6
p.P286L
c.857C>T
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