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.F419S

c.1256T>C

Surrounding Variants

1 paper

NM_004975.4

p.Y420S

c.1259A>C

1 paper

NM_004975.4

p.F416delFs

c.1247_1248delGA

11 papers

NM_004975.4

p.F416L

c.1248C>G

11 papers

NM_004975.4

p.F416L

c.1248C>A

1 paper

NM_004975.4

p.F416C

c.1247T>G

1 paper

NM_004975.4

p.E422A

c.1265A>C

11 papers

NM_004975.4

p.F416L

c.1246T>C

1 paper

NM_004975.4

p.Q423fs

c.1267_1268fs

1 paper

NM_004975.4

p.K424N

c.1272G>C

1 paper

NM_004975.4

p.N414D

c.1240A>G

3 papers

NM_004975.4

p.V413I

c.1237G>A

1 paper

NM_004975.4

p.Q426E

c.1276C>G