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.E357K

c.1069G>A

Surrounding Variants

1 paper

NM_004770.3

p.M347I

c.1041G>A

1 paper

NM_004770.3

p.M347I

c.1041G>C

1 paper

NM_004770.3

p.M347I

c.1041G>T

1 paper

NM_004770.3

p.S371A

c.1111T>G

1 paper

NM_004770.3

p.A375V

c.1124C>T

1 paper

NM_004770.3

p.T378A

c.1132A>G

2 papers

NM_004770.3

p.T381A

c.1141A>G

2 papers

NM_004770.3

p.Y332D

c.994T>G

1 paper

NM_004770.3

p.R330Q

c.989G>A

1 paper

NM_004770.3

p.Y384N

c.1150T>A

1 paper

NM_004770.3

p.Y384F

c.1151A>T

1 paper

NM_004770.3

p.L328I

c.982C>A