Varaico: Literature-Extracted Genetic Variants

Gene:SOWAHC
Variant:p.R498S

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
Selected Variant
2 papers
NM_023016.4
p.R498S
c.1494G>T
Surrounding Variants
2 papers
NM_023016.4
p.R498S
c.1494G>C
1 paper
NM_023016.4
p.R498W
c.1492A>T
2 papers
NM_023016.4
p.I468V
c.1402A>G
1 paper
NM_023016.4
p.L423F
c.1267C>T
1 paper
NM_023016.4
p.R384W
c.1150C>T
1 paper
NM_023016.4
p.A378fs
c.1132_1133fs
1 paper
NM_023016.4
p.K377R
c.1130A>G
2 papers
NM_023016.4
p.K377fs
c.1129_1130fs
1 paper
NM_023016.4
p.K377fs
c.1129_1130fs
1 paper
NM_023016.4
p.K376insFs
c.1126dupA
2 papers
NM_023016.4
p.K376delFs
c.1126delA
1 paper
NM_023016.4
p.G375fs
c.1123_1124fs
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