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.S576G

c.1726A>G

Surrounding Variants

1 paper

NM_004979.6

p.S575A

c.1723T>G

1 paper

NM_004979.6

p.R574R

c.1722T>C

1 paper

NM_004979.6

p.N578I

c.1733A>T

1 paper

NM_004979.6

p.R592W

c.1774C>T

1 paper

NM_004979.6

p.P604H

c.1811C>A

1 paper

NM_004979.6

p.E611*

c.1831G>T

1 paper

NM_004979.6

p.G621insFs

c.1862dupG

1 paper

NM_004979.6

p.G621fs

c.1861_1862fs

3 papers

NM_004979.6

p.R628K

c.1883G>A

1 paper

NM_004979.6

p.P571S

c.1711C>T

1 paper

NM_004979.6

p.R536G

c.1606A>G

1 paper

NM_004979.6

p.S519P

c.1555T>C