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

1 paper

NM_000725.4

p.R216*

c.646C>T

Surrounding Variants

1 paper

NM_000725.4

p.I237T

c.710T>C

1 paper

NM_000725.4

p.I238T

c.713T>C

1 paper

NM_000725.4

p.D194E

c.582C>A

1 paper

NM_000725.4

p.D194E

c.582C>G

1 paper

NM_000725.4

p.P175S

c.523C>T

1 paper

NM_000725.4

p.Q251*

c.751C>T

1 paper

NM_000725.4

p.N149T

c.446A>C

1 paper

NM_000725.4

p.G139R

c.415G>A

1 paper

NM_000725.4

p.G139R

c.415G>C

1 paper

NM_000725.4

p.R302P

c.905G>C

1 paper

NM_000725.4

p.L303F

c.907C>T

1 paper

NM_000725.4

p.V317I

c.949G>A