Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHC

SOWAHC

30 papers

Pfam Domains

WHD_SOWAHaa 12–98UCSCSOWAH N-terminal winged helix-turn-helix domain
Ank_2aa 271–372UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

sosondowah ankyrin repeat domain family member C

HGNC Previous Symbols

C2orf26; ANKRD57

Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
2 papers
NM_023016.4
p.R202C
c.604C>T
2 papers
NM_023016.4
p.D367N
c.1099G>A
2 papers
NM_023016.4
p.K376delFs
c.1126delA
2 papers
NM_023016.4
p.K377fs
c.1129_1130fs
2 papers
NM_023016.4
p.I468V
c.1402A>G
2 papers
NM_023016.4
p.R498S
c.1494G>C
2 papers
NM_023016.4
p.R498S
c.1494G>T
1 paper
NM_023016.4
p.E16K
c.46G>A
1 paper
NM_023016.4
p.L42L
c.126A>G
1 paper
NM_023016.4
p.V99E
c.296T>A
1 paper
NM_023016.4
p.L127V
c.379C>G
1 paper
NM_023016.4
p.P170S
c.508C>T
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