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.S516C

c.1546A>T

Surrounding Variants

1 paper

NM_012281.3

p.S514N

c.1541G>A

1 paper

NM_012281.3

p.S513S

c.1539A>T

1 paper

NM_012281.3

p.S527del1

c.1579_1580delAGC

1 paper

NM_012281.3

p.E505K

c.1513G>A

2 papers

NM_012281.3

p.R533*

c.1597C>T

1 paper

NM_012281.3

p.R533Q

c.1598G>A

1 paper

NM_012281.3

p.T537delFs

c.1609delA

1 paper

NM_012281.3

p.K536E

c.1606A>G

1 paper

NM_012281.3

p.T537fs

c.1609_1610fs

1 paper

NM_012281.3

p.V494A

c.1481T>C

3 papers

NM_012281.3

p.F538S

c.1613T>C

3 papers

NM_012281.3

p.R539L

c.1616G>T