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

3 papers

NM_004975.4

p.Q228*

c.682C>T

Surrounding Variants

1 paper

NM_004975.4

p.A230insFs

c.690dupC

1 paper

NM_004975.4

p.V232M

c.694G>A

1 paper

NM_004975.4

p.E233D

c.699G>T

1 paper

NM_004975.4

p.E233D

c.699G>C

1 paper

NM_004975.4

p.G221Fs

c.661delinsATFs

1 paper

NM_004975.4

p.E219A

c.656A>C

2 papers

NM_004975.4

p.E219Q

c.655G>C

1 paper

NM_004975.4

p.E219K

c.655G>A

1 paper

NM_004975.4

p.D218E

c.654T>G

1 paper

NM_004975.4

p.D218E

c.654T>A

1 paper

NM_004975.4

p.A238S

c.712G>T

1 paper

NM_004975.4

p.D218N

c.652G>A