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

4 papers

NM_012281.3

p.D612N

c.1834G>A

Surrounding Variants

3 papers

NM_012281.3

p.S616A

c.1846T>G

2 papers

NM_012281.3

p.T607A

c.1819A>G

2 papers

NM_012281.3

p.T602A

c.1804A>G

1 paper

NM_012281.3

p.V627I

c.1879G>A

1 paper

NM_012281.3

p.N587fs

c.1759_1760fs

1 paper

NM_012281.3

p.K579R

c.1736A>G

1 paper

NM_012281.3

p.R573delFs

c.1719delA

1 paper

NM_012281.3

p.T558T

c.1674G>A

1 paper

NM_012281.3

p.S557I

c.1670G>T

4 papers

NM_012281.3

p.N544S

c.1631A>G

1 paper

NM_012281.3

p.N542K

c.1626T>A

1 paper

NM_012281.3

p.N542K

c.1626T>G