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.D81D

c.243C>T

Surrounding Variants

1 paper

NM_000718.4

p.D81insFs

c.243dupC

1 paper

NM_000718.4

p.N82fs

c.244_245fs

1 paper

NM_000718.4

p.F76L

c.228C>A

1 paper

NM_000718.4

p.F76L

c.228C>G

1 paper

NM_000718.4

p.F76L

c.226T>C

3 papers

NM_000718.4

p.K89E

c.265A>G

1 paper

NM_000718.4

p.R90C

c.268C>T

1 paper

NM_000718.4

p.P95insFs

c.283dupC

1 paper

NM_000718.4

p.P95Fs

c.284delinsCTFs

1 paper

NM_000718.4

p.C68_F69ins9

c.202_206ins27

1 paper

NM_000718.4

p.N67I

c.200A>T

1 paper

NM_000718.4

p.L58V

c.172C>G