Varaico: Literature-Extracted Genetic Variants

KCTD1

57 papers

RefSeq Summary

This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negative...

Pfam Domains

BTB_2aa 32–124UCSCBTB/POZ domain

KCTD1-15_CTDaa 141–237UCSCBTB/POZ domain-containing protein KCTD1/15, C-terminal domain

DUF3504aa 283–442UCSCDomain of unknown function (DUF3504)

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 1

HGNC Previous Name

potassium channel tetramerisation domain containing 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 99 variants

2 papers

NM_001142730.3

p.I66F

c.196A>T

2 papers

NM_001142730.3

p.D102E

c.306C>G

2 papers

NM_001142730.3

p.L250F

c.748C>T

2 papers

NM_001142730.3

p.R845W

c.2533C>T

2 papers

NM_001142730.3

p.R858W

c.2572C>T

1 paper

NM_001142730.3

p.M1insFs

c.2dupT

1 paper

NM_001142730.3

p.A2insFs

c.5dupC

1 paper

NM_001142730.3

p.T12A

c.34A>G

1 paper

NM_001142730.3

p.T12P

c.34A>C

1 paper

NM_001142730.3

p.A21P

c.61G>C

1 paper

NM_001142730.3

p.A22_A23ins5

c.66_67ins15

1 paper

NM_001142730.3

p.E33A

c.98A>C