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.V94M

c.280G>A

Surrounding Variants

1 paper

NM_001378969.1

p.R92C

c.274C>T

1 paper

NM_001378969.1

p.N96D

c.286A>G

2 papers

NM_001378969.1

p.R99C

c.295C>T

1 paper

NM_001378969.1

p.R99H

c.296G>A

4 papers

NM_001378969.1

p.P88P

c.264C>T

1 paper

NM_001378969.1

p.D85_R86del1

c.255_257delCGG

1 paper

NM_001378969.1

p.R86P

c.257G>C

1 paper

NM_001378969.1

p.R86Q

c.257G>A

1 paper

NM_001378969.1

p.R86W

c.256C>T

8 papers

NM_001378969.1

p.K102K

c.306G>A

1 paper

NM_001378969.1

p.D85V

c.254A>T

1 paper

NM_001378969.1

p.D85N

c.253G>A