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

4 papers

NM_012281.3

p.S447R

c.1339A>C

Surrounding Variants

4 papers

NM_012281.3

p.S447R

c.1341C>A

4 papers

NM_012281.3

p.S447R

c.1341C>G

1 paper

NM_012281.3

p.N450Y

c.1348A>T

1 paper

NM_012281.3

p.K437R

c.1310A>G

1 paper

NM_012281.3

p.Q458_S459Splc

c.1374+40T>C

1 paper

NM_012281.3

p.Q458_S459Splc

c.1374+68T>C

1 paper

NM_012281.3

p.S459A

c.1375T>G

1 paper

NM_012281.3

p.H478N

c.1432C>A

1 paper

NM_012281.3

p.L485M

c.1453C>A

2 papers

NM_012281.3

p.T489T

c.1467G>A

1 paper

NM_012281.3

p.V494A

c.1481T>C

1 paper

NM_012281.3

p.E505K

c.1513G>A