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

1–12 of 425 variants

29 papers

NM_004975.4

p.R306C

c.916C>T

27 papers

NM_004975.4

p.G379R

c.1135G>C

27 papers

NM_004975.4

p.G379R

c.1135G>A

25 papers

NM_004975.4

p.R312H

c.935G>A

20 papers

NM_004975.4

p.T374I

c.1121C>T

17 papers

NM_004975.4

p.S347R

c.1039A>C

17 papers

NM_004975.4

p.S347R

c.1041C>G

17 papers

NM_004975.4

p.S347R

c.1041C>A

17 papers

NM_004975.4

p.V378A

c.1133T>C

14 papers

NM_004975.4

p.R312C

c.934C>T

13 papers

NM_004975.4

p.T210M

c.629C>T

12 papers

NM_004975.4

p.G401R

c.1201G>C