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.Y274fs

c.820_821fs

Surrounding Variants

1 paper

NM_004975.4

p.Y274_V275insFs

c.822_823insC

1 paper

NM_004975.4

p.Y273insFs

c.818dupA

3 papers

NM_004975.4

p.P272S

c.814C>T

1 paper

NM_004975.4

p.L279H

c.836T>A

1 paper

NM_004975.4

p.A269D

c.806C>A

1 paper

NM_004975.4

p.L267F

c.801G>T

1 paper

NM_004975.4

p.L267F

c.801G>C

1 paper

NM_004975.4

p.V286M

c.856G>A

1 paper

NM_004975.4

p.V286fs

c.856_857fs

1 paper

NM_004975.4

p.V286fs

c.856_857fs

1 paper

NM_004975.4

p.G260G

c.780C>T

1 paper

NM_004975.4

p.W255_F257del3

c.763_770del9