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

Selected Variant

2 papers

NM_001142730.3

p.L250F

c.748C>T

Surrounding Variants

1 paper

NM_001142730.3

p.P243S

c.727C>T

1 paper

NM_001142730.3

p.N260S

c.779A>G

1 paper

NM_001142730.3

p.R237C

c.709C>T

1 paper

NM_001142730.3

p.A265insFs

c.794dupC

1 paper

NM_001142730.3

p.I231I

c.693C>T

1 paper

NM_001142730.3

p.E271K

c.811G>A

1 paper

NM_001142730.3

p.G274D

c.821G>A

1 paper

NM_001142730.3

p.G220delFs

c.658delC

1 paper

NM_001142730.3

p.R209H

c.626G>A

1 paper

NM_001142730.3

p.C205C

c.615C>T

1 paper

NM_001142730.3

p.D200insFs

c.600dupC

1 paper

NM_001142730.3

p.F304F

c.912C>T