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

3 papers

NM_012281.3

p.E323A

c.968A>C

Surrounding Variants

2 papers

NM_012281.3

p.E323D

c.969A>C

2 papers

NM_012281.3

p.E323D

c.969A>T

2 papers

NM_012281.3

p.E323K

c.967G>A

1 paper

NM_012281.3

p.L324F

c.972G>C

1 paper

NM_012281.3

p.L324F

c.972G>T

2 papers

NM_012281.3

p.S322A

c.964T>G

1 paper

NM_012281.3

p.A321V

c.962C>T

1 paper

NM_012281.3

p.G325A

c.974G>C

2 papers

NM_012281.3

p.C320S

c.959G>C

2 papers

NM_012281.3

p.C320S

c.958T>A

1 paper

NM_012281.3

p.L328V

c.982C>G

1 paper

NM_012281.3

p.K318R

c.953A>G