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.G379fs

c.1135_1136fs

Surrounding Variants

27 papers

NM_004975.4

p.G379R

c.1135G>C

27 papers

NM_004975.4

p.G379R

c.1135G>A

6 papers

NM_004975.4

p.G379V

c.1136G>T

17 papers

NM_004975.4

p.V378A

c.1133T>C

2 papers

NM_004975.4

p.V378F

c.1132G>T

8 papers

NM_004975.4

p.V378L

c.1132G>C

9 papers

NM_004975.4

p.Y380C

c.1139A>G

2 papers

NM_004975.4

p.Y380S

c.1139A>C

1 paper

NM_004975.4

p.T377I

c.1130C>T

3 papers

NM_004975.4

p.T377N

c.1130C>A

8 papers

NM_004975.4

p.G381R

c.1141G>C

8 papers

NM_004975.4

p.G381R

c.1141G>A