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.G314W

c.940G>T

Surrounding Variants

1 paper

NM_012281.3

p.G314A

c.941G>C

1 paper

NM_012281.3

p.T316A

c.946A>G

1 paper

NM_012281.3

p.R311H

c.932G>A

1 paper

NM_012281.3

p.R311_I312delFs

c.931_935del5

1 paper

NM_012281.3

p.K318Q

c.952A>C

1 paper

NM_012281.3

p.K318E

c.952A>G

1 paper

NM_012281.3

p.K318R

c.953A>G

2 papers

NM_012281.3

p.G309A

c.926G>C

1 paper

NM_012281.3

p.Q308*

c.922C>T

2 papers

NM_012281.3

p.C320S

c.958T>A

2 papers

NM_012281.3

p.C320S

c.959G>C

1 paper

NM_012281.3

p.A321V

c.962C>T