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.T607A

c.1819A>G

Surrounding Variants

1 paper

NM_001378969.1

p.P603L

c.1808C>T

23 papers

NM_001378969.1

p.G600R

c.1798G>C

23 papers

NM_001378969.1

p.G600R

c.1798G>A

1 paper

NM_001378969.1

p.I617V

c.1849A>G

1 paper

NM_001378969.1

p.S592R

c.1776C>G

1 paper

NM_001378969.1

p.A622V

c.1865C>T

1 paper

NM_001378969.1

p.E626K

c.1876G>A

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.S629R

c.1885A>C

1 paper

NM_001378969.1

p.S629R

c.1887T>G

1 paper

NM_001378969.1

p.S629R

c.1887T>A