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.P7L

c.20C>T

Surrounding Variants

1 paper

NM_004770.3

p.P6S

c.16C>T

1 paper

NM_004770.3

p.A5D

c.14C>A

1 paper

NM_004770.3

p.L9*

c.26T>A

1 paper

NM_004770.3

p.L9*

c.26T>G

1 paper

NM_004770.3

p.A5S

c.13G>T

1 paper

NM_004770.3

p.S16T

c.46T>A

1 paper

NM_004770.3

p.P24S

c.70C>T

1 paper

NM_004770.3

p.D26Y

c.76G>T

1 paper

NM_004770.3

p.R29W

c.85C>T

1 paper

NM_004770.3

p.E47D

c.141A>C

1 paper

NM_004770.3

p.E47D

c.141A>T

1 paper

NM_004770.3

p.R51I

c.152G>T