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.E109K

c.325G>A

Surrounding Variants

1 paper

NM_001378969.1

p.E109Q

c.325G>C

1 paper

NM_001378969.1

p.E109E

c.327G>A

1 paper

NM_001378969.1

p.Y108F

c.323A>T

1 paper

NM_001378969.1

p.Y108S

c.323A>C

1 paper

NM_001378969.1

p.R107H

c.320G>A

1 paper

NM_001378969.1

p.R107C

c.319C>T

3 papers

NM_001378969.1

p.P106L

c.317C>T

1 paper

NM_001378969.1

p.H104Y

c.310C>T

1 paper

NM_001378969.1

p.Y114C

c.341A>G

1 paper

NM_001378969.1

p.D115N

c.343G>A

8 papers

NM_001378969.1

p.K102K

c.306G>A

1 paper

NM_001378969.1

p.D115D

c.345C>T