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.Q82H

c.246G>T

Surrounding Variants

1 paper

NM_012281.3

p.Y83N

c.247T>A

1 paper

NM_012281.3

p.F85_D86del1

c.255_257delTGA

1 paper

NM_012281.3

p.E79A

c.236A>C

1 paper

NM_012281.3

p.R87G

c.259C>G

1 paper

NM_012281.3

p.E71K

c.211G>A

1 paper

NM_012281.3

p.L96Q

c.287T>A

1 paper

NM_012281.3

p.L66P

c.197T>C

1 paper

NM_012281.3

p.K103R

c.308A>G

2 papers

NM_012281.3

p.K103K

c.309G>A

1 paper

NM_012281.3

p.R61_T65delFs

c.182_194del13

1 paper

NM_012281.3

p.Y106N

c.316T>A

1 paper

NM_012281.3

p.T58T

c.174C>G