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.L248V

c.742C>G

Surrounding Variants

1 paper

NM_004979.6

p.A252V

c.755C>T

1 paper

NM_004979.6

p.F232L

c.696C>G

1 paper

NM_004979.6

p.F232L

c.696C>A

1 paper

NM_004979.6

p.F232L

c.694T>C

1 paper

NM_004979.6

p.I272T

c.815T>C

1 paper

NM_004979.6

p.P209Q

c.626C>A

1 paper

NM_004979.6

p.A202T

c.604G>A

1 paper

NM_004979.6

p.R295C

c.883C>T

1 paper

NM_004979.6

p.V198L

c.592G>T

1 paper

NM_004979.6

p.V198L

c.592G>C

2 papers

NM_004979.6

p.R298L

c.893G>T

1 paper

NM_004979.6

p.S182_F194del13

c.544_581del39