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.V406A

c.1217T>C

Surrounding Variants

1 paper

NM_012281.3

p.V406I

c.1216G>A

1 paper

NM_012281.3

p.S407A

c.1219T>G

3 papers

NM_012281.3

p.V404A

c.1211T>C

19 papers

NM_012281.3

p.V404M

c.1210G>A

4 papers

NM_012281.3

p.V404L

c.1210G>C

4 papers

NM_012281.3

p.V404L

c.1210G>T

5 papers

NM_012281.3

p.P403A

c.1207C>G

1 paper

NM_012281.3

p.V402A

c.1205T>C

1 paper

NM_012281.3

p.V402L

c.1204G>C

1 paper

NM_012281.3

p.P401A

c.1201C>G

1 paper

NM_012281.3

p.A399V

c.1196C>T

1 paper

NM_012281.3

p.V397A

c.1190T>C