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.D131insFs

c.391_392ins14

Surrounding Variants

1 paper

NM_000718.4

p.L130_D131Splc

c.391-2A>T

1 paper

NM_000718.4

p.D131D

c.393C>T

1 paper

NM_000718.4

p.D132N

c.394G>A

1 paper

NM_000718.4

p.E134E

c.402G>A

1 paper

NM_000718.4

p.F141I

c.421T>A

1 paper

NM_000718.4

p.F141L

c.421T>C

1 paper

NM_000718.4

p.F141Y

c.422T>A

1 paper

NM_000718.4

p.F141L

c.423T>A

1 paper

NM_000718.4

p.F141L

c.423T>G

1 paper

NM_000718.4

p.G146R

c.436G>A

1 paper

NM_000718.4

p.I147F

c.439A>T

1 paper

NM_000718.4

p.A151T

c.451G>A