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

1 paper

NM_000718.4

p.T811T

c.2433G>A

Surrounding Variants

1 paper

NM_000718.4

p.V819delFs

c.2456delT

1 paper

NM_000718.4

p.V819fs

c.2455_2456fs

1 paper

NM_000718.4

p.E794_E795insG

c.2380_2384ins3

1 paper

NM_000718.4

p.E790G

c.2369A>G

1 paper

NM_000718.4

p.Y788*

c.2364C>A

1 paper

NM_000718.4

p.Y788*

c.2364C>G

1 paper

NM_000718.4

p.G844G

c.2532C>T

1 paper

NM_000718.4

p.L775P

c.2324T>C

1 paper

NM_000718.4

p.E769E

c.2307G>A

5 papers

NM_000718.4

p.A862S

c.2584G>T

1 paper

NM_000718.4

p.A862V

c.2585C>T

1 paper

NM_000718.4

p.A863T

c.2587G>A