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

4 papers

NM_004975.4

p.W369R

c.1105T>A

Surrounding Variants

5 papers

NM_004975.4

p.W369R

c.1105T>C

2 papers

NM_004975.4

p.W369L

c.1106G>T

3 papers

NM_004975.4

p.W369*

c.1106G>A

2 papers

NM_004975.4

p.W369C

c.1107G>T

2 papers

NM_004975.4

p.W369C

c.1107G>C

3 papers

NM_004975.4

p.W369*

c.1107G>A

3 papers

NM_004975.4

p.W370R

c.1108T>C

3 papers

NM_004975.4

p.W370R

c.1108T>A

5 papers

NM_004975.4

p.W370*

c.1109G>A

4 papers

NM_004975.4

p.W370*

c.1110G>A

1 paper

NM_004975.4

p.T372I

c.1115C>T

2 papers

NM_004975.4

p.T372N

c.1115C>A