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.L42L

c.124C>T

Surrounding Variants

1 paper

NM_004979.6

p.R50G

c.148C>G

1 paper

NM_004979.6

p.R50H

c.149G>A

2 papers

NM_004979.6

p.T57M

c.170C>T

1 paper

NM_004979.6

p.R60C

c.178C>T

1 paper

NM_004979.6

p.Y61fs

c.181_182fs

1 paper

NM_004979.6

p.Y61_L65delFs

c.182_194del13

1 paper

NM_004979.6

p.G18C

c.52G>T

1 paper

NM_004979.6

p.S68C

c.202A>T

1 paper

NM_004979.6

p.S69W

c.206C>G

1 paper

NM_004979.6

p.G80R

c.238G>C

1 paper

NM_004979.6

p.M1V

c.1A>G

1 paper

NM_004979.6

p.P88P

c.264T>A