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.V479L

c.1435G>C

Surrounding Variants

1 paper

NM_000718.4

p.V479L

c.1435G>T

3 papers

NM_000718.4

p.R477C

c.1429C>T

1 paper

NM_000718.4

p.Q482*

c.1444C>T

1 paper

NM_000718.4

p.Y485F

c.1454A>T

1 paper

NM_000718.4

p.W486insFs

c.1457_1458insG

1 paper

NM_000718.4

p.V491V

c.1473G>C

1 paper

NM_000718.4

p.S461L

c.1382C>T

1 paper

NM_000718.4

p.R508Q

c.1523G>A

1 paper

NM_000718.4

p.Y515Splc

c.1544-66G>A

1 paper

NM_000718.4

p.R539S

c.1617A>T

1 paper

NM_000718.4

p.R543L

c.1628G>T

1 paper

NM_000718.4

p.S544A

c.1630T>G