Varaico: Literature-Extracted Genetic Variants

KCNB1

407 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 33–132UCSCBTB/POZ domain

Ion_transaa 188–424UCSCIon transport protein

Kv2channelaa 467–619UCSCKv2 voltage-gated K+ channel

Kv2channelaa 637–685UCSCKv2 voltage-gated K+ channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily B member 1

HGNC Alias Symbol

Kv2.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004975.4

p.S700insFs

c.2099dupG

Surrounding Variants

1 paper

NM_004975.4

p.A701S

c.2101G>T

1 paper

NM_004975.4

p.A702V

c.2105C>T

1 paper

NM_004975.4

p.A706T

c.2116G>A

1 paper

NM_004975.4

p.D693E

c.2079C>G

1 paper

NM_004975.4

p.D693E

c.2079C>A

1 paper

NM_004975.4

p.D693delFs

c.2078delT

1 paper

NM_004975.4

p.L708L

c.2122C>T

1 paper

NM_004975.4

p.C710S

c.2128T>A

1 paper

NM_004975.4

p.C710S

c.2129G>C

1 paper

NM_004975.4

p.V687I

c.2059G>A

1 paper

NM_004975.4

p.L714F

c.2142G>T

1 paper

NM_004975.4

p.L714F

c.2142G>C