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.F75L

c.225C>G

Surrounding Variants

1 paper

NM_001378969.1

p.F75L

c.225C>A

1 paper

NM_001378969.1

p.F75L

c.223T>C

1 paper

NM_001378969.1

p.E77*

c.229G>T

1 paper

NM_001378969.1

p.E77K

c.229G>A

1 paper

NM_001378969.1

p.E72K

c.214G>A

1 paper

NM_001378969.1

p.K71E

c.211A>G

3 papers

NM_001378969.1

p.E70A

c.209A>C

1 paper

NM_001378969.1

p.S68N

c.203G>A

1 paper

NM_001378969.1

p.G67G

c.201C>T

1 paper

NM_001378969.1

p.D85N

c.253G>A

1 paper

NM_001378969.1

p.D85V

c.254A>T

1 paper

NM_001378969.1

p.Y61_L65delFs

c.182_194del13