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.E773G

c.2318A>G

Surrounding Variants

1 paper

NM_001142730.3

p.E774V

c.2321A>T

1 paper

NM_001142730.3

p.S786C

c.2357C>G

1 paper

NM_001142730.3

p.L759L

c.2277C>T

1 paper

NM_001142730.3

p.N792Y

c.2374A>T

1 paper

NM_001136205.2

p.G134R

c.400G>C

1 paper

NM_001142730.3

p.P727P

c.2181C>T

1 paper

NM_001142730.3

p.G830R

c.2488G>C

1 paper

NM_001142730.3

p.G830R

c.2488G>A

1 paper

NM_001142730.3

p.S839N

c.2516G>A

1 paper

NM_001142730.3

p.S839S

c.2517C>T

2 papers

NM_001142730.3

p.R845W

c.2533C>T

1 paper

NM_001136205.2

p.R241Q

c.722G>A