Varaico: Literature-Extracted Genetic Variants

KCNB2

108 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

BTB_2aa 37–136UCSCBTB/POZ domain

Ion_transaa 192–428UCSCIon transport protein

Kv2channelaa 471–759UCSCKv2 voltage-gated K+ channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily B member 2

HGNC Alias Symbol

Kv2.2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 160 variants

4 papers

NM_004770.3

p.E522K

c.1564G>A

2 papers

NM_004770.3

p.K145delFs

c.435delA

2 papers

NM_004770.3

p.R162*

c.484C>T

2 papers

NM_004770.3

p.N169K

c.507T>A

2 papers

NM_004770.3

p.N169K

c.507T>G

2 papers

NM_004770.3

p.T214M

c.641C>T

2 papers

NM_004770.3

p.P276L

c.827C>T

2 papers

NM_004770.3

p.R304Q

c.911G>A

2 papers

NM_004770.3

p.R307H

c.920G>A

2 papers

NM_004770.3

p.Y332D

c.994T>G

2 papers

NM_004770.3

p.T381A

c.1141A>G

2 papers

NM_004770.3

p.V450I

c.1348G>A