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.A819S

c.2455G>T

Surrounding Variants

1 paper

NM_004975.4

p.A819V

c.2456C>T

1 paper

NM_004975.4

p.T817R

c.2450C>G

1 paper

NM_004975.4

p.G822_K823insC

c.2464_2468ins3

1 paper

NM_004975.4

p.C813F

c.2438G>T

2 papers

NM_004975.4

p.P825S

c.2473C>T

1 paper

NM_004975.4

p.G827R

c.2479G>C

1 paper

NM_004975.4

p.C831R

c.2491T>C

1 paper

NM_004975.4

p.C831*

c.2493C>A

1 paper

NM_004975.4

p.E834*

c.2500G>T

1 paper

NM_004975.4

p.H836N

c.2506C>A

1 paper

NM_004975.4

p.S800A

c.2398T>G

1 paper

NM_004975.4

p.E798Q

c.2392G>C