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.R536G

c.1606A>G

Surrounding Variants

1 paper

NM_004979.6

p.S519P

c.1555T>C

1 paper

NM_004979.6

p.T516S

c.1547C>G

1 paper

NM_004979.6

p.T516S

c.1546A>T

1 paper

NM_004979.6

p.R514C

c.1540C>T

1 paper

NM_004979.6

p.V506I

c.1516G>A

1 paper

NM_004979.6

p.P571S

c.1711C>T

1 paper

NM_004979.6

p.T489_C490Splc

c.1468-8G>T

1 paper

NM_004979.6

p.H483Y

c.1447C>T

1 paper

NM_004979.6

p.H479Q

c.1437C>G

1 paper

NM_004979.6

p.H479Q

c.1437C>A

1 paper

NM_004979.6

p.R471H

c.1412G>A

3 papers

NM_004979.6

p.L466V

c.1396C>G