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.P365R

c.1094C>G

Surrounding Variants

1 paper

NM_004975.4

p.P365S

c.1093C>T

2 papers

NM_004975.4

p.S363fs

c.1087_1088fs

1 paper

NM_004975.4

p.S363delFs

c.1087delT

1 paper

NM_004975.4

p.S363fs

c.1087_1088fs

1 paper

NM_004975.4

p.S363C

c.1087A>T

1 paper

NM_004975.4

p.S363G

c.1087A>G

5 papers

NM_004975.4

p.W369R

c.1105T>C

4 papers

NM_004975.4

p.W369R

c.1105T>A

2 papers

NM_004975.4

p.F361L

c.1083C>G

2 papers

NM_004975.4

p.F361L

c.1083C>A

2 papers

NM_004975.4

p.W369L

c.1106G>T

3 papers

NM_004975.4

p.W369*

c.1106G>A