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.R302R

c.906C>A

Surrounding Variants

1 paper

NM_001378969.1

p.R302R

c.906C>G

1 paper

NM_001378969.1

p.R302P

c.905G>C

1 paper

NM_001378969.1

p.R302H

c.905G>A

1 paper

NM_001378969.1

p.S304P

c.910T>C

1 paper

NM_001378969.1

p.S301A

c.901T>G

8 papers

NM_001378969.1

p.S301P

c.901T>C

3 papers

NM_001378969.1

p.G306S

c.916G>A

10 papers

NM_001378969.1

p.G306A

c.917G>C

1 paper

NM_001378969.1

p.R308W

c.922C>T

1 paper

NM_001378969.1

p.I297F

c.889A>T

1 paper

NM_001378969.1

p.R296K

c.887G>A

1 paper

NM_001378969.1

p.F295insFs

c.885dupC