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.V399A

c.1196T>C

Surrounding Variants

1 paper

NM_001378969.1

p.V399L

c.1195G>C

2 papers

NM_001378969.1

p.P400A

c.1198C>G

1 paper

NM_001378969.1

p.V401L

c.1201G>T

1 paper

NM_001378969.1

p.V401L

c.1201G>C

2 papers

NM_001378969.1

p.V401M

c.1201G>A

1 paper

NM_001378969.1

p.A396V

c.1187C>T

1 paper

NM_001378969.1

p.V392A

c.1175T>C

22 papers

NM_001378969.1

p.V392I

c.1174G>A

1 paper

NM_001378969.1

p.R408L

c.1223G>T

13 papers

NM_001378969.1

p.S390N

c.1169G>A

1 paper

NM_001378969.1

p.S385P

c.1153T>C

1 paper

NM_001378969.1

p.Q414*

c.1240C>T