Varaico: Literature-Extracted Genetic Variants

KCND2

187 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 43–132UCSCBTB/POZ domain

Ion_transaa 184–417UCSCIon transport protein

DUF3399aa 470–546UCSCDomain of unknown function (DUF3399)

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily D member 2

HGNC Alias Symbols

Kv4.2; RK5; KIAA1044

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012281.3

p.F240L

c.718T>C

Surrounding Variants

1 paper

NM_012281.3

p.F240L

c.720C>A

1 paper

NM_012281.3

p.F240L

c.720C>G

1 paper

NM_012281.3

p.V237L

c.709G>C

1 paper

NM_012281.3

p.Y244H

c.730T>C

1 paper

NM_012281.3

p.T234M

c.701C>T

1 paper

NM_012281.3

p.D233N

c.697G>A

1 paper

NM_012281.3

p.R247H

c.740G>A

1 paper

NM_012281.3

p.L248M

c.742C>A

1 paper

NM_012281.3

p.C231W

c.693C>G

1 paper

NM_012281.3

p.A249V

c.746C>T

1 paper

NM_012281.3

p.Y255_F257del3

c.763_770del9

1 paper

NM_012281.3

p.R224W

c.670C>T