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

1 paper

NM_001142730.3

p.N124_M125del2

c.370_374del6

Surrounding Variants

1 paper

NM_001142730.3

p.A129A

c.387C>T

1 paper

NM_001142730.3

p.A111D

c.332C>A

1 paper

NM_001142730.3

p.R145H

c.434G>A

1 paper

NM_001142730.3

p.L105P

c.314T>C

2 papers

NM_001142730.3

p.D102E

c.306C>G

1 paper

NM_001142730.3

p.D102E

c.306C>A

1 paper

NM_001142730.3

p.G150E

c.449G>A

1 paper

NM_001142730.3

p.D151D

c.453C>T

1 paper

NM_001142730.3

p.D100N

c.298G>A

1 paper

NM_001142730.3

p.L99M

c.295C>A

1 paper

NM_001142730.3

p.E78_D80del0

c.234_239del6

1 paper

NM_001142730.3

p.D74A

c.221A>C