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

2 papers

NM_001378969.1

p.P125P

c.375G>A

Surrounding Variants

1 paper

NM_001378969.1

p.L118M

c.352C>A

1 paper

NM_001378969.1

p.E134K

c.400G>A

1 paper

NM_001378969.1

p.E117V

c.350A>T

2 papers

NM_001378969.1

p.E117K

c.349G>A

1 paper

NM_001378969.1

p.E134D

c.402G>T

1 paper

NM_001378969.1

p.E134D

c.402G>C

1 paper

NM_001378969.1

p.D116D

c.348C>T

1 paper

NM_001378969.1

p.D115D

c.345C>T

1 paper

NM_001378969.1

p.D115N

c.343G>A

1 paper

NM_001378969.1

p.Y136F

c.407A>T

1 paper

NM_001378969.1

p.Y114C

c.341A>G

1 paper

NM_001378969.1

p.R139H

c.416G>A