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.V291fs

c.871_872fs

Surrounding Variants

1 paper

NM_001378969.1

p.V291delFs

c.871delC

6 papers

NM_001378969.1

p.R290Q

c.869G>A

1 paper

NM_001378969.1

p.V294F

c.880G>T

1 paper

NM_001378969.1

p.V294I

c.880G>A

1 paper

NM_001378969.1

p.R293del1

c.877_878delGCG

1 paper

NM_001378969.1

p.V294A

c.881T>C

1 paper

NM_001378969.1

p.F295insFs

c.885dupC

4 papers

NM_001378969.1

p.R293_F295ins1

c.877_885dup9

1 paper

NM_001378969.1

p.V287L

c.859G>C

1 paper

NM_001378969.1

p.R296K

c.887G>A

1 paper

NM_001378969.1

p.I297F

c.889A>T

1 paper

NM_001378969.1

p.G284G

c.852C>T