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.F796L

c.2388C>G

Surrounding Variants

1 paper

NM_004770.3

p.F796L

c.2388C>A

1 paper

NM_004770.3

p.F796L

c.2386T>C

1 paper

NM_004770.3

p.S798*

c.2393C>A

1 paper

NM_004770.3

p.S798*

c.2393C>G

1 paper

NM_004770.3

p.E800D

c.2400G>C

1 paper

NM_004770.3

p.E800D

c.2400G>T

1 paper

NM_004770.3

p.R801W

c.2401A>T

1 paper

NM_004770.3

p.K790T

c.2369A>C

1 paper

NM_004770.3

p.R787fs

c.2359_2360fs

1 paper

NM_004770.3

p.S785Y

c.2354C>A

1 paper

NM_004770.3

p.P786delFs

c.2358delC

1 paper

NM_004770.3

p.L784P

c.2351T>C