Varaico: Literature-Extracted Genetic Variants

Gene:KCTD14
Variant:p.S57L

KCTD14

32 papers

Pfam Domains

BTB_2aa 35–122UCSCBTB/POZ domain
KCTD_Caa 133–254UCSCKCTD C-terminal domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 14

HGNC Alias Symbol

MGC2376

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023930.4
p.S57L
c.170C>T
Surrounding Variants
1 paper
NM_023930.4
p.G56V
c.167G>T
1 paper
NM_023930.4
p.V39I
c.115G>A
1 paper
NM_023930.4
p.D80H
c.238G>C
1 paper
NM_023930.4
p.R81H
c.242G>A
1 paper
NM_023930.4
p.Y92H
c.274T>C
1 paper
NM_023930.4
p.R94C
c.280C>T
1 paper
NM_023930.4
p.Q97E
c.289C>G
1 paper
NM_023930.4
p.R108C
c.322C>T
1 paper
NM_023930.4
p.E114K
c.340G>A
1 paper
NM_023930.4
p.Q137*
c.409C>T
1 paper
NM_023930.4
p.Q141*
c.421C>T
1 paper
NM_023930.4
p.R154C
c.460C>T
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