Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHA
Variant:p.M511I

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.M511I
c.1533G>A
Surrounding Variants
1 paper
NM_175873.6
p.M511I
c.1533G>C
1 paper
NM_175873.6
p.M511I
c.1533G>T
1 paper
NM_175873.6
p.R514L
c.1541G>T
1 paper
NM_175873.6
p.S527*
c.1580C>A
1 paper
NM_175873.6
p.S527*
c.1580C>G
1 paper
NM_175873.6
p.Q490L
c.1469A>T
1 paper
NM_175873.6
p.Q490K
c.1468C>A
2 papers
NM_175873.6
p.D486N
c.1456G>A
1 paper
NM_175873.6
p.A484S
c.1450G>T
1 paper
NM_175873.6
p.L545F
c.1635G>C
1 paper
NM_175873.6
p.L545F
c.1635G>T
1 paper
NM_175873.6
p.S477N
c.1430G>A
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