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

2 papers

NM_012281.3

p.S212R

c.634A>C

Surrounding Variants

2 papers

NM_012281.3

p.S212R

c.636C>A

2 papers

NM_012281.3

p.S212R

c.636C>G

1 paper

NM_012281.3

p.P213L

c.638C>T

1 paper

NM_012281.3

p.G210E

c.629G>A

1 paper

NM_012281.3

p.G210V

c.629G>T

1 paper

NM_012281.3

p.P208S

c.622C>T

1 paper

NM_012281.3

p.K217E

c.649A>G

1 paper

NM_012281.3

p.C221F

c.662G>T

1 paper

NM_012281.3

p.R224W

c.670C>T

1 paper

NM_012281.3

p.A196A

c.588C>A

1 paper

NM_012281.3

p.C231W

c.693C>G

1 paper

NM_012281.3

p.D233N

c.697G>A