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

Selected Variant

1 paper

NM_004770.3

p.A242T

c.724G>A

Surrounding Variants

1 paper

NM_004770.3

p.E247Q

c.739G>C

1 paper

NM_004770.3

p.R231H

c.692G>A

1 paper

NM_004770.3

p.S254S

c.762C>G

1 paper

NM_004770.3

p.N228S

c.683A>G

1 paper

NM_004770.3

p.E223K

c.667G>A

1 paper

NM_004770.3

p.E220K

c.658G>A

2 papers

NM_004770.3

p.T214M

c.641C>T

2 papers

NM_004770.3

p.P276L

c.827C>T

1 paper

NM_004770.3

p.T284A

c.850A>G

1 paper

NM_004770.3

p.V296M

c.886G>A

1 paper

NM_004770.3

p.R298H

c.893G>A

2 papers

NM_004770.3

p.R304Q

c.911G>A