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.R312S

c.934C>A

Surrounding Variants

14 papers

NM_004975.4

p.R312C

c.934C>T

25 papers

NM_004975.4

p.R312H

c.935G>A

2 papers

NM_004975.4

p.S314P

c.940T>C

1 paper

NM_004975.4

p.L308P

c.923T>C

2 papers

NM_004975.4

p.G316S

c.946G>A

1 paper

NM_004975.4

p.G316V

c.947G>T

1 paper

NM_004975.4

p.G316D

c.947G>A

1 paper

NM_004975.4

p.L317F

c.949C>T

1 paper

NM_004975.4

p.R306H

c.917G>A

29 papers

NM_004975.4

p.R306C

c.916C>T

3 papers

NM_004975.4

p.Q318H

c.954G>T

3 papers

NM_004975.4

p.Q318H

c.954G>C