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

2 papers

NM_004770.3

p.N169K

c.507T>G

Surrounding Variants

2 papers

NM_004770.3

p.N169K

c.507T>A

1 paper

NM_004770.3

p.E166A

c.497A>C

1 paper

NM_004770.3

p.P173S

c.517C>T

2 papers

NM_004770.3

p.R162*

c.484C>T

1 paper

NM_004770.3

p.T158A

c.472A>G

1 paper

NM_004770.3

p.L152L

c.456G>A

1 paper

NM_004770.3

p.E146fs

c.436_437fs

1 paper

NM_004770.3

p.K145fs

c.433_434fs

1 paper

NM_004770.3

p.K145insFs

c.435dupA

1 paper

NM_004770.3

p.Q143fs

c.427_428fs

1 paper

NM_004770.3

p.Q143*

c.427C>T

2 papers

NM_004770.3

p.K145delFs

c.435delA