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.A16T

c.46G>A

Surrounding Variants

2 papers

NM_001378969.1

p.A15E

c.44C>A

1 paper

NM_001378969.1

p.G18R

c.52G>C

1 paper

NM_001378969.1

p.A12V

c.35C>T

1 paper

NM_001378969.1

p.M20V

c.58A>G

1 paper

NM_001378969.1

p.L9delFs

c.27delC

1 paper

NM_001378969.1

p.W8insFs

c.22dupT

1 paper

NM_001378969.1

p.N24S

c.71A>G

1 paper

NM_001378969.1

p.M27T

c.80T>C

1 paper

NM_001378969.1

p.G4R

c.10G>C

1 paper

NM_001378969.1

p.G4R

c.10G>A

1 paper

NM_001378969.1

p.A2insFs

c.4dupG

7 papers

NM_001378969.1

p.A2E

c.5C>A