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.P217P

c.651G>A

Surrounding Variants

1 paper

NM_001378969.1

p.P217L

c.650C>T

1 paper

NM_001378969.1

p.G219R

c.655G>C

1 paper

NM_001378969.1

p.G219R

c.655G>A

2 papers

NM_001378969.1

p.R221C

c.661C>T

8 papers

NM_001378969.1

p.K214R

c.641A>G

4 papers

NM_001378969.1

p.S223S

c.669G>C

1 paper

NM_001378969.1

p.C207C

c.621C>T

17 papers

NM_001378969.1

p.F227del1

c.679_680delGAA

1 paper

NM_001378969.1

p.T204M

c.611C>T

1 paper

NM_001378969.1

p.T204R

c.611C>G

1 paper

NM_001378969.1

p.T231M

c.692C>T

1 paper

NM_001378969.1

p.A232A

c.696G>A