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

1–12 of 87 variants

3 papers

NM_004979.6

p.L466V

c.1396C>G

3 papers

NM_004979.6

p.R628K

c.1883G>A

2 papers

NM_004979.6

p.T57M

c.170C>T

2 papers

NM_004979.6

p.R107Q

c.320G>A

2 papers

NM_004979.6

p.R298L

c.893G>T

2 papers

NM_004979.6

p.C322S

c.964T>A

2 papers

NM_004979.6

p.C322S

c.965G>C

2 papers

NM_004979.6

p.R424C

c.1270C>T

2 papers

NM_004979.6

p.R431C

c.1291C>T

1 paper

NM_004979.6

p.M1V

c.1A>G

1 paper

NM_004979.6

p.G18C

c.52G>T

1 paper

NM_004979.6

p.L42L

c.124C>T