Varaico: Literature-Extracted Genetic Variants

KCND1

87 papers

RefSeq Summary

This gene encodes a multipass membrane protein that comprises the pore subunit of the voltage-gated A-type potassium channel, which functions in the repolarization of membrane action potentials. Activ...

Pfam Domains

Shal-typeaa 3–29UCSCShal-type voltage-gated potassium channels, N-terminal

BTB_2aa 42–131UCSCBTB/POZ domain

Ion_transaa 185–419UCSCIon transport protein

DUF3399aa 470–550UCSCDomain of unknown function (DUF3399)

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily D member 1

HGNC Alias Symbol

Kv4.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004979.6

p.T442A

c.1324A>G

Surrounding Variants

1 paper

NM_004979.6

p.Q448*

c.1342C>T

1 paper

NM_004979.6

p.K450*

c.1348A>T

1 paper

NM_004979.6

p.L432S

c.1295T>C

1 paper

NM_004979.6

p.R431H

c.1292G>A

2 papers

NM_004979.6

p.R431C

c.1291C>T

1 paper

NM_004979.6

p.E456_D457Splc

c.1368+1G>A

1 paper

NM_004979.6

p.D457N

c.1369G>A

1 paper

NM_004979.6

p.S458N

c.1373G>A

2 papers

NM_004979.6

p.R424C

c.1270C>T

3 papers

NM_004979.6

p.L466V

c.1396C>G

1 paper

NM_004979.6

p.R471H

c.1412G>A

1 paper

NM_004979.6

p.H479Q

c.1437C>G