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.R307C

c.919C>T

Surrounding Variants

2 papers

NM_004770.3

p.R307H

c.920G>A

1 paper

NM_004770.3

p.I305_L309del0

c.914_925del12

2 papers

NM_004770.3

p.R304Q

c.911G>A

1 paper

NM_004770.3

p.A315T

c.943G>A

1 paper

NM_004770.3

p.R298H

c.893G>A

1 paper

NM_004770.3

p.V296M

c.886G>A

1 paper

NM_004770.3

p.S318L

c.953C>T

1 paper

NM_004770.3

p.L321R

c.962T>G

1 paper

NM_004770.3

p.L328I

c.982C>A

1 paper

NM_004770.3

p.T284A

c.850A>G

1 paper

NM_004770.3

p.R330Q

c.989G>A

2 papers

NM_004770.3

p.Y332D

c.994T>G