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.V64A

c.191T>C

Surrounding Variants

1 paper

NM_000725.4

p.V60E

c.179T>A

1 paper

NM_000725.4

p.V60_F62del3

c.178_185del9

1 paper

NM_000725.4

p.E77V

c.230A>T

1 paper

NM_000725.4

p.V44L

c.130G>C

1 paper

NM_000725.4

p.S39delins

c.115_116delinsTA

1 paper

NM_000725.4

p.E38D

c.114G>C

1 paper

NM_000725.4

p.E38D

c.114G>T

1 paper

NM_000725.4

p.S20_Y21del1

c.60_62delCTA

1 paper

NM_000725.4

p.D19N

c.55G>A

1 paper

NM_000725.4

p.A18T

c.52G>A

1 paper

NM_000725.4

p.I105T

c.314T>C

1 paper

NM_000725.4

p.G106W

c.316G>T