Varaico: Literature-Extracted Genetic Variants

CACNB1

69 papers

RefSeq Summary

The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium curre...

Pfam Domains

VGCC_beta4Aa_Naa 58–99UCSCVoltage gated calcium channel subunit beta domain 4Aa N terminal

Guanylate_kinaa 228–408UCSCGuanylate kinase

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit beta 1

HGNC Previous Symbol

CACNLB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000723.5

p.R37*

c.109C>T

Surrounding Variants

1 paper

NM_000723.5

p.D42fs

c.124_125fs

1 paper

NM_000723.5

p.Y31F

c.92A>T

1 paper

NM_000723.5

p.G43E

c.128G>A

1 paper

NM_000723.5

p.G29fs

c.85_86fs

1 paper

NM_000723.5

p.Q28_G29Splc

c.85-1G>A

1 paper

NM_000723.5

p.D42_T45delFs

c.124_133del10

1 paper

NM_000723.5

p.Q57_G58Splc

c.171+1516G>A

1 paper

NM_000723.5

p.T5fs

c.13_14fs

1 paper

NM_000723.5

p.M1insFs

c.3dupG

1 paper

NM_000723.5

p.V2D

c.5T>A

1 paper

NM_000723.5

p.M1insFs

c.2dupT

1 paper

NM_000723.5

p.M1insFs

c.2_3insC