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.R146C

c.436C>T

Surrounding Variants

1 paper

NM_004979.6

p.A148T

c.442G>A

1 paper

NM_004979.6

p.K140N

c.420G>C

1 paper

NM_004979.6

p.R139P

c.416G>C

1 paper

NM_004979.6

p.R137W

c.409C>T

1 paper

NM_004979.6

p.Q170R

c.509A>G

1 paper

NM_004979.6

p.D115G

c.344A>G

1 paper

NM_004979.6

p.D115N

c.343G>A

1 paper

NM_004979.6

p.E109K

c.325G>A

2 papers

NM_004979.6

p.R107Q

c.320G>A

1 paper

NM_004979.6

p.R102L

c.305G>T

1 paper

NM_004979.6

p.R99*

c.295C>T

1 paper

NM_004979.6

p.S182_F194del13

c.544_581del39