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

37 papers

NM_001378969.1

p.L450F

c.1348C>T

Surrounding Variants

9 papers

NM_001378969.1

p.L450P

c.1349T>C

1 paper

NM_001378969.1

p.E452*

c.1354G>T

1 paper

NM_001378969.1

p.G448W

c.1342G>T

1 paper

NM_001378969.1

p.G448R

c.1342G>C

1 paper

NM_001378969.1

p.E452K

c.1354G>A

1 paper

NM_001378969.1

p.G448R

c.1342G>A

1 paper

NM_001378969.1

p.A453V

c.1358C>T

1 paper

NM_001378969.1

p.H443D

c.1327C>G

1 paper

NM_001378969.1

p.Y441Y

c.1323C>T

1 paper

NM_001378969.1

p.Y441F

c.1322A>T

5 papers

NM_001378969.1

p.S438L

c.1313C>T

3 papers

NM_001378969.1

p.R431H

c.1292G>A