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

1–12 of 47 variants

3 papers

NM_000725.4

p.R388C

c.1162C>T

2 papers

NM_000725.4

p.R423H

c.1268G>A

2 papers

NM_000725.4

p.G452G

c.1356G>A

1 paper

NM_000725.4

p.M1L

c.1A>C

1 paper

NM_000725.4

p.V7L

c.19G>C

1 paper

NM_000725.4

p.V7L

c.19G>T

1 paper

NM_000725.4

p.G9R

c.25G>A

1 paper

NM_000725.4

p.G9R

c.25G>C

1 paper

NM_000725.4

p.A18T

c.52G>A

1 paper

NM_000725.4

p.D19N

c.55G>A

1 paper

NM_000725.4

p.S20_Y21del1

c.60_62delCTA

1 paper

NM_000725.4

p.E38D

c.114G>C