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

4 papers

NM_004770.3

p.E522K

c.1564G>A

Surrounding Variants

1 paper

NM_004770.3

p.Q523H

c.1569G>C

1 paper

NM_004770.3

p.Q523H

c.1569G>T

1 paper

NM_004770.3

p.N526S

c.1577A>G

1 paper

NM_004770.3

p.S530F

c.1589C>T

1 paper

NM_004770.3

p.N505K

c.1515C>A

1 paper

NM_004770.3

p.N505K

c.1515C>G

1 paper

NM_004770.3

p.S500L

c.1499C>T

1 paper

NM_004770.3

p.E546K

c.1636G>A

1 paper

NM_004770.3

p.W492R

c.1474T>A

1 paper

NM_004770.3

p.W492R

c.1474T>C

1 paper

NM_004770.3

p.D484G

c.1451A>G

1 paper

NM_004770.3

p.I465K

c.1394T>A