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.F652V

c.1954T>G

Surrounding Variants

1 paper

NM_004975.4

p.E655K

c.1963G>A

1 paper

NM_004975.4

p.S647N

c.1940G>A

1 paper

NM_004975.4

p.A646D

c.1937C>A

1 paper

NM_004975.4

p.A646T

c.1936G>A

1 paper

NM_004975.4

p.D645E

c.1935T>G

1 paper

NM_004975.4

p.D645E

c.1935T>A

1 paper

NM_004975.4

p.S643_P644del2

c.1927_1931del6

1 paper

NM_004975.4

p.S643R

c.1929C>G

1 paper

NM_004975.4

p.S643R

c.1929C>A

1 paper

NM_004975.4

p.S643R

c.1927A>C

1 paper

NM_004975.4

p.N641Y

c.1921A>T

1 paper

NM_004975.4

p.P666insFs

c.1996dupC