Varaico: Literature-Extracted Genetic Variants

CACNA1B

350 papers

RefSeq Summary

The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex w...

Pfam Domains

Ion_transaa 94–367UCSCIon transport protein

Ion_transaa 481–720UCSCIon transport protein

Ion_transaa 1149–1427UCSCIon transport protein

Ion_transaa 1470–1719UCSCIon transport protein

GPHHaa 1728–1781UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1792–1869UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 B

HGNC Previous Symbol

CACNL1A5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000718.4

p.G31V

c.92G>T

Surrounding Variants

1 paper

NM_000718.4

p.G31R

c.91G>C

1 paper

NM_000718.4

p.P32L

c.95C>T

1 paper

NM_000718.4

p.A29insFs

c.87dupG

1 paper

NM_000718.4

p.A29V

c.86C>T

1 paper

NM_000718.4

p.A29fs

c.85_86fs

1 paper

NM_000718.4

p.P34S

c.100C>T

1 paper

NM_000718.4

p.A26A

c.78C>A

1 paper

NM_000718.4

p.L37L

c.109C>T

1 paper

NM_000718.4

p.G23ins3

c.68_69ins9

1 paper

NM_000718.4

p.G40insFs

c.118_119dupGG

1 paper

NM_000718.4

p.Q41fs

c.121_122fs

1 paper

NM_000718.4

p.E19E

c.57G>A