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.F1406_F1407delFs

c.4216_4219del4

Surrounding Variants

3 papers

NM_000718.4

p.F1406C

c.4217T>G

1 paper

NM_000718.4

p.F1405delFs

c.4213delT

1 paper

NM_000718.4

p.P1404T

c.4210C>A

1 paper

NM_000718.4

p.V1408I

c.4222G>A

13 papers

NM_000718.4

p.R1389H

c.4166G>A

1 paper

NM_000718.4

p.L1352_W1353insFs

c.4056_4057insG

1 paper

NM_000718.4

p.A1336T

c.4006G>A

1 paper

NM_000718.4

p.R1323Splc

c.3969-1G>A

2 papers

NM_000718.4

p.A1446T

c.4336G>A

1 paper

NM_000718.4

p.R1451Q

c.4352G>A

1 paper

NM_000718.4

p.Y1452H

c.4354T>C

1 paper

NM_000718.4

p.Q1455P

c.4364A>C