Varaico: Literature-Extracted Genetic Variants

Gene:KCTD8

KCTD8

47 papers

Pfam Domains

BTB_2aa 46–146UCSCBTB/POZ domain
H1_KCTD8_12_16aa 207–321UCSCKCTD8/12/16 H1 domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 8

HGNC Previous Name

potassium channel tetramerisation domain containing 8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
4 papers
NM_198353.3
p.R407C
c.1219C>T
2 papers
NM_198353.3
p.P66Q
c.197C>A
2 papers
NM_198353.3
p.R391C
c.1171C>T
2 papers
NM_198353.3
p.T423T
c.1269A>G
2 papers
NM_198353.3
p.R459H
c.1376G>A
1 paper
NM_198353.3
p.S8N
c.23G>A
1 paper
NM_198353.3
p.S29S
c.87G>C
1 paper
NM_198353.3
p.A28_A38ins3
c.84_113dup30
1 paper
NM_198353.3
p.P39S
c.115C>T
1 paper
NM_198353.3
p.L63F
c.187C>T
1 paper
NM_198353.3
p.M73I
c.219G>C
1 paper
NM_198353.3
p.M73I
c.219G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."