Varaico: Literature-Extracted Genetic Variants

Gene:KCTD8
Variant:p.R461C

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
Selected Variant
1 paper
NM_198353.3
p.R461C
c.1381C>T
Surrounding Variants
1 paper
NM_198353.3
p.R461H
c.1382G>A
2 papers
NM_198353.3
p.R459H
c.1376G>A
1 paper
NM_198353.3
p.E466*
c.1396G>T
1 paper
NM_198353.3
p.E466K
c.1396G>A
1 paper
NM_198353.3
p.I450fs
c.1348_1349fs
1 paper
NM_198353.3
p.F447L
c.1341T>G
1 paper
NM_198353.3
p.F447L
c.1341T>A
1 paper
NM_198353.3
p.F447L
c.1339T>C
1 paper
NM_198353.3
p.D446N
c.1336G>A
1 paper
NM_198353.3
p.E438K
c.1312G>A
2 papers
NM_198353.3
p.T423T
c.1269A>G
1 paper
NM_198353.3
p.R421Q
c.1262G>A
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