Varaico: Literature-Extracted Genetic Variants

KCND3

318 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

Shal-typeaa 3–29UCSCShal-type voltage-gated potassium channels, N-terminal

BTB_2aa 42–131UCSCBTB/POZ domain

Ion_transaa 182–414UCSCIon transport protein

DUF3399aa 468–563UCSCDomain of unknown function (DUF3399)

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily D member 3

HGNC Previous Symbols

SCA22; SCA19

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378969.1

p.C233R

c.697T>C

Surrounding Variants

1 paper

NM_001378969.1

p.A232A

c.696G>A

3 papers

NM_001378969.1

p.V234I

c.700G>A

1 paper

NM_001378969.1

p.T231M

c.692C>T

17 papers

NM_001378969.1

p.F227del1

c.679_680delGAA

1 paper

NM_001378969.1

p.V239M

c.715G>A

4 papers

NM_001378969.1

p.S223S

c.669G>C

1 paper

NM_001378969.1

p.L243Q

c.728T>A

1 paper

NM_001378969.1

p.R244W

c.730C>T

2 papers

NM_001378969.1

p.R221C

c.661C>T

1 paper

NM_001378969.1

p.G219R

c.655G>C

1 paper

NM_001378969.1

p.G219R

c.655G>A

1 paper

NM_001378969.1

p.P217P

c.651G>A