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.C398Y

c.1193G>A

Surrounding Variants

5 papers

NM_004975.4

p.C397F

c.1190G>T

1 paper

NM_004975.4

p.C397Y

c.1190G>A

12 papers

NM_004975.4

p.G401R

c.1201G>C

12 papers

NM_004975.4

p.G401R

c.1201G>A

1 paper

NM_004975.4

p.G401V

c.1202G>T

7 papers

NM_004975.4

p.G395R

c.1183G>C

7 papers

NM_004975.4

p.G395R

c.1183G>A

4 papers

NM_004975.4

p.G394R

c.1180G>C

4 papers

NM_004975.4

p.G394R

c.1180G>A

2 papers

NM_004975.4

p.L403M

c.1207C>A

1 paper

NM_004975.4

p.L403P

c.1208T>C

2 papers

NM_004975.4

p.V404M

c.1210G>A