Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHA
Variant:p.C195fs

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.C195fs
c.583_584fs
Surrounding Variants
1 paper
NM_175873.6
p.C195F
c.584G>T
1 paper
NM_175873.6
p.E190K
c.568G>A
1 paper
NM_175873.6
p.E202V
c.605A>T
1 paper
NM_175873.6
p.A207E
c.620C>A
1 paper
NM_175873.6
p.A173S
c.517G>T
1 paper
NM_175873.6
p.A167V
c.500C>T
1 paper
NM_175873.6
p.C223F
c.668G>T
1 paper
NM_175873.6
p.P225S
c.673C>T
1 paper
NM_175873.6
p.A161V
c.482C>T
1 paper
NM_175873.6
p.A161S
c.481G>T
1 paper
NM_175873.6
p.R233W
c.697C>T
1 paper
NM_175873.6
p.G157R
c.469G>A
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