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.R147L

c.440G>T

Surrounding Variants

1 paper

NM_012281.3

p.R147H

c.440G>A

1 paper

NM_012281.3

p.D150D

c.450C>T

1 paper

NM_012281.3

p.D151N

c.451G>A

1 paper

NM_012281.3

p.A152P

c.454G>C

1 paper

NM_012281.3

p.R142L

c.425G>T

1 paper

NM_012281.3

p.D153N

c.457G>A

1 paper

NM_012281.3

p.R140H

c.419G>A

1 paper

NM_012281.3

p.Y134insFs

c.401dupA

1 paper

NM_012281.3

p.A167E

c.500C>A

1 paper

NM_012281.3

p.P178S

c.532C>T

1 paper

NM_012281.3

p.Y115F

c.344A>T

1 paper

NM_012281.3

p.T182_F194del13

c.544_581del39