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.P176L

c.527C>T

Surrounding Variants

1 paper

NM_001378969.1

p.T180M

c.539C>T

1 paper

NM_001378969.1

p.Q167P

c.500A>C

1 paper

NM_001378969.1

p.Y186N

c.556T>A

1 paper

NM_001378969.1

p.R166H

c.497G>A

1 paper

NM_001378969.1

p.M160I

c.480G>T

1 paper

NM_001378969.1

p.M160I

c.480G>C

1 paper

NM_001378969.1

p.M160I

c.480G>A

1 paper

NM_001378969.1

p.A182_A194del13

c.544_581del39

1 paper

NM_001378969.1

p.D152E

c.456C>G

1 paper

NM_001378969.1

p.D152E

c.456C>A

1 paper

NM_001378969.1

p.D152G

c.455A>G

1 paper

NM_001378969.1

p.D152H

c.454G>C