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.P573insFs

c.1718_1719ins5

Surrounding Variants

1 paper

NM_004975.4

p.P573_T574insFs

c.1719_1720ins5

1 paper

NM_004975.4

p.T576R

c.1727C>G

1 paper

NM_004975.4

p.V569L

c.1705G>T

1 paper

NM_004975.4

p.V569L

c.1705G>C

1 paper

NM_004975.4

p.V569I

c.1705G>A

1 paper

NM_004975.4

p.G578G

c.1734G>C

1 paper

NM_004975.4

p.S564C

c.1690A>T

10 papers

NM_004975.4

p.R583*

c.1747C>T

1 paper

NM_004975.4

p.R583Q

c.1748G>A

1 paper

NM_004975.4

p.E563*

c.1687G>T

1 paper

NM_004975.4

p.M585I

c.1755G>T

1 paper

NM_004975.4

p.M585I

c.1755G>C