Varaico: Literature-Extracted Genetic Variants

Gene:KCTD12

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
1–12 of 26 variants
1 paper
NM_138444.4
p.L10S
c.29T>C
1 paper
NM_138444.4
p.S25A
c.73T>G
1 paper
NM_138444.4
p.I35I
c.105C>T
1 paper
NM_138444.4
p.V40L
c.118G>T
1 paper
NM_138444.4
p.V40L
c.118G>C
1 paper
NM_138444.4
p.P56S
c.166C>T
1 paper
NM_138444.4
p.P69L
c.206C>T
1 paper
NM_138444.4
p.R90H
c.269G>A
1 paper
NM_138444.4
p.E109D
c.327G>T
1 paper
NM_138444.4
p.E109D
c.327G>C
1 paper
NM_138444.4
p.S185G
c.553A>G
1 paper
NM_138444.4
p.S187A
c.559T>G
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