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

2 papers

NM_004975.4

p.Y328*

c.984C>G

Surrounding Variants

1 paper

NM_004975.4

p.Y328*

c.984C>A

1 paper

NM_004975.4

p.E330Q

c.988G>C

1 paper

NM_004975.4

p.E330K

c.988G>A

10 papers

NM_004975.4

p.E330D

c.990G>T

10 papers

NM_004975.4

p.E330D

c.990G>C

2 papers

NM_004975.4

p.R325Q

c.974G>A

3 papers

NM_004975.4

p.G332V

c.995G>T

2 papers

NM_004975.4

p.R325W

c.973C>T

2 papers

NM_004975.4

p.T323I

c.968C>T

4 papers

NM_004975.4

p.L334P

c.1001T>C

2 papers

NM_004975.4

p.G321D

c.962G>A

2 papers

NM_004975.4

p.L336F

c.1006C>T