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.K776R

c.2327A>G

Surrounding Variants

1 paper

NM_004975.4

p.K776N

c.2328A>T

1 paper

NM_004975.4

p.K776N

c.2328A>C

1 paper

NM_004975.4

p.K776fs

c.2326_2327fs

1 paper

NM_004975.4

p.P775H

c.2324C>A

1 paper

NM_004975.4

p.P774H

c.2321C>A

3 papers

NM_004975.4

p.T788K

c.2363C>A

1 paper

NM_004975.4

p.D762N

c.2284G>A

1 paper

NM_004975.4

p.E793G

c.2378A>G

1 paper

NM_004975.4

p.D757N

c.2269G>A

1 paper

NM_004975.4

p.I756L

c.2266A>C

1 paper

NM_004975.4

p.E798Q

c.2392G>C

1 paper

NM_004975.4

p.S800A

c.2398T>G