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

2 papers

NM_004975.4

p.D382V

c.1145A>T

Surrounding Variants

1 paper

NM_004975.4

p.D382H

c.1144G>C

3 papers

NM_004975.4

p.D382N

c.1144G>A

1 paper

NM_004975.4

p.I383N

c.1148T>A

8 papers

NM_004975.4

p.G381R

c.1141G>C

8 papers

NM_004975.4

p.G381R

c.1141G>A

1 paper

NM_004975.4

p.Y384fs

c.1150_1151fs

1 paper

NM_004975.4

p.Y384F

c.1151A>T

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.Y384delFs

c.1151delT

1 paper

NM_004975.4

p.P385S

c.1153C>T

9 papers

NM_004975.4

p.P385T

c.1153C>A