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

9 papers

NM_001378969.1

p.G384S

c.1150G>A

Surrounding Variants

2 papers

NM_001378969.1

p.F383F

c.1149C>T

1 paper

NM_001378969.1

p.S385P

c.1153T>C

13 papers

NM_001378969.1

p.S390N

c.1169G>A

19 papers

NM_001378969.1

p.T377M

c.1130C>T

22 papers

NM_001378969.1

p.V392I

c.1174G>A

1 paper

NM_001378969.1

p.V392A

c.1175T>C

10 papers

NM_001378969.1

p.P375S

c.1123C>T

7 papers

NM_001378969.1

p.V374A

c.1121T>C

15 papers

NM_001378969.1

p.M373I

c.1119G>T

15 papers

NM_001378969.1

p.M373I

c.1119G>C

15 papers

NM_001378969.1

p.M373I

c.1119G>A

2 papers

NM_001378969.1

p.M373L

c.1117A>T