Varaico: Literature-Extracted Genetic Variants

Gene:KCTD12
Variant:p.S200A

KCTD12

17 papers

Pfam Domains

BTB_2aa 36–129UCSCBTB/POZ domain
H1_KCTD8_12_16aa 208–324UCSCKCTD8/12/16 H1 domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 12

HGNC Previous Symbol

C13orf2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138444.4
p.S200A
c.598T>G
Surrounding Variants
1 paper
NM_138444.4
p.A190E
c.569C>A
1 paper
NM_138444.4
p.S187A
c.559T>G
1 paper
NM_138444.4
p.S185G
c.553A>G
1 paper
NM_138444.4
p.S243A
c.727T>G
1 paper
NM_138444.4
p.G250V
c.749G>T
1 paper
NM_138444.4
p.P263Q
c.788C>A
1 paper
NM_138444.4
p.E264*
c.790G>T
1 paper
NM_138444.4
p.F276L
c.826T>C
1 paper
NM_138444.4
p.F276L
c.828C>G
1 paper
NM_138444.4
p.F276L
c.828C>A
1 paper
NM_138444.4
p.L284P
c.851T>C
1 paper
NM_138444.4
p.E109D
c.327G>T
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