Varaico: Literature-Extracted Genetic Variants

CACNB3

41 papers

RefSeq Summary

This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of...

Pfam Domains

VGCC_beta4Aa_Naa 16–58UCSCVoltage gated calcium channel subunit beta domain 4Aa N terminal

Guanylate_kinaa 176–356UCSCGuanylate kinase

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit beta 3

HGNC Previous Symbol

CACNLB3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000725.4

p.R388C

c.1162C>T

Surrounding Variants

1 paper

NM_000725.4

p.L384L

c.1150C>T

1 paper

NM_000725.4

p.P394P

c.1182C>A

2 papers

NM_000725.4

p.R423H

c.1268G>A

1 paper

NM_000725.4

p.E427K

c.1279G>A

2 papers

NM_000725.4

p.G452G

c.1356G>A

1 paper

NM_000725.4

p.D454G

c.1361A>G

1 paper

NM_000725.4

p.R458Q

c.1373G>A

1 paper

NM_001206915.2

p.R430Q

c.1289G>A

NM_000725.4

p.R471Q

c.1412G>A

1 paper

NM_000725.4

p.G378R

c.1132G>A

1 paper

NM_000725.4

p.G378R

c.1132G>C

1 paper

NM_000725.4

p.L370L

c.1108C>T

1 paper

NM_000725.4

p.G366R

c.1096G>C