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

1–12 of 278 variants

37 papers

NM_001378969.1

p.L450F

c.1348C>T

23 papers

NM_001378969.1

p.G600R

c.1798G>C

23 papers

NM_001378969.1

p.G600R

c.1798G>A

22 papers

NM_001378969.1

p.V392I

c.1174G>A

19 papers

NM_001378969.1

p.T377M

c.1130C>T

17 papers

NM_001378969.1

p.F227del1

c.679_680delGAA

16 papers

NM_001378969.1

p.G345V

c.1034G>T

16 papers

NM_001378969.1

p.T352P

c.1054A>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

13 papers

NM_001378969.1

p.V338E

c.1013T>A