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

6 papers

NM_004975.4

p.S202F

c.605C>T

Surrounding Variants

1 paper

NM_004975.4

p.L201V

c.601C>G

1 paper

NM_004975.4

p.V200I

c.598G>A

1 paper

NM_004975.4

p.A205V

c.614C>T

10 papers

NM_004975.4

p.I199F

c.595A>T

1 paper

NM_004975.4

p.L191_F198del0

c.572_592del21

4 papers

NM_004975.4

p.L208P

c.623T>C

1 paper

NM_004975.4

p.L208H

c.623T>A

3 papers

NM_004975.4

p.I196F

c.586A>T

1 paper

NM_004975.4

p.S195C

c.584C>G

1 paper

NM_004975.4

p.N209K

c.627C>G

1 paper

NM_004975.4

p.N209K

c.627C>A

1 paper

NM_004975.4

p.T210P

c.628A>C