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.A453V

c.1358C>T

Surrounding Variants

1 paper

NM_004975.4

p.A453S

c.1357G>T

1 paper

NM_004975.4

p.D452G

c.1355A>G

1 paper

NM_004975.4

p.K451M

c.1352A>T

1 paper

NM_004975.4

p.R456W

c.1366C>T

1 paper

NM_004975.4

p.N449fs

c.1345_1346fs

1 paper

NM_004975.4

p.S457R

c.1369A>C

1 paper

NM_004975.4

p.S457R

c.1371C>G

1 paper

NM_004975.4

p.S457R

c.1371C>A

1 paper

NM_004975.4

p.D462A

c.1385A>C

1 paper

NM_004975.4

p.S444C

c.1330A>T

1 paper

NM_004975.4

p.I463T

c.1388T>C

1 paper

NM_004975.4

p.N442K

c.1326T>G