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

17 papers

NM_004975.4

p.S347R

c.1041C>G

Surrounding Variants

1 paper

NM_004975.4

p.S347S

c.1041C>T

17 papers

NM_004975.4

p.S347R

c.1041C>A

1 paper

NM_004975.4

p.L348P

c.1043T>C

1 paper

NM_004975.4

p.S347C

c.1039A>T

17 papers

NM_004975.4

p.S347R

c.1039A>C

6 papers

NM_004975.4

p.V349F

c.1045G>T

1 paper

NM_004975.4

p.F351V

c.1051T>G

1 paper

NM_004975.4

p.F351S

c.1052T>C

1 paper

NM_004975.4

p.A352V

c.1055C>T

1 paper

NM_004975.4

p.E353K

c.1057G>A

3 papers

NM_004975.4

p.M340I

c.1020G>T

3 papers

NM_004975.4

p.M340I

c.1020G>C