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.G510V

c.1529G>T

Surrounding Variants

1 paper

NM_004975.4

p.E508*

c.1522G>T

1 paper

NM_004975.4

p.K507*

c.1519A>T

1 paper

NM_004975.4

p.A515T

c.1543G>A

1 paper

NM_004975.4

p.S517A

c.1549T>G

2 papers

NM_004975.4

p.K502fs

c.1504_1505fs

1 paper

NM_004975.4

p.K502*

c.1504A>T

2 papers

NM_004975.4

p.S501insFs

c.1503dupT

1 paper

NM_004975.4

p.S499I

c.1496G>T

2 papers

NM_004975.4

p.E497*

c.1489G>T

1 paper

NM_004975.4

p.Q527*

c.1579C>T

7 papers

NM_004975.4

p.Y533*

c.1599C>G

7 papers

NM_004975.4

p.Y533*

c.1599C>A