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.L630Q

c.1889T>A

Surrounding Variants

1 paper

NM_004975.4

p.R627L

c.1880G>T

1 paper

NM_004975.4

p.A621V

c.1862C>T

1 paper

NM_004975.4

p.A621S

c.1861G>T

1 paper

NM_004975.4

p.N641Y

c.1921A>T

1 paper

NM_004975.4

p.S643R

c.1927A>C

1 paper

NM_004975.4

p.S643R

c.1929C>G

1 paper

NM_004975.4

p.S643R

c.1929C>A

2 papers

NM_004975.4

p.T616S

c.1847C>G

1 paper

NM_004975.4

p.T616N

c.1847C>A

2 papers

NM_004975.4

p.T616S

c.1846A>T

1 paper

NM_004975.4

p.S643_P644del2

c.1927_1931del6

1 paper

NM_004975.4

p.K615M

c.1844A>T