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.N639K

c.1917C>A

Surrounding Variants

1 paper

NM_001378969.1

p.N639K

c.1917C>G

1 paper

NM_001378969.1

p.N641Y

c.1921A>T

1 paper

NM_001378969.1

p.G637D

c.1910G>A

2 papers

NM_001378969.1

p.I642F

c.1924A>T

5 papers

NM_001378969.1

p.P633S

c.1897C>T

1 paper

NM_001378969.1

p.P631fs

c.1891_1892fs

1 paper

NM_001378969.1

p.S629R

c.1887T>G

1 paper

NM_001378969.1

p.S629R

c.1887T>A

1 paper

NM_001378969.1

p.S629R

c.1885A>C

1 paper

NM_001378969.1

p.E626D

c.1878G>T

1 paper

NM_001378969.1

p.E626D

c.1878G>C

1 paper

NM_001378969.1

p.E626K

c.1876G>A