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.R1982Q

c.5945G>A

Surrounding Variants

1 paper

NM_000718.4

p.P1989T

c.5965C>A

1 paper

NM_000718.4

p.E1994K

c.5980G>A

1 paper

NM_000718.4

p.S1995T

c.5984G>C

1 paper

NM_000718.4

p.G1997V

c.5990G>T

1 paper

NM_000718.4

p.A1999V

c.5996C>T

4 papers

NM_000718.4

p.A2006V

c.6017C>T

1 paper

NM_000718.4

p.L1971_A1972Splc

c.5913+3G>A

1 paper

NM_000718.4

p.R1957C

c.5869C>T

1 paper

NM_000718.4

p.T2024T

c.6072G>A

1 paper

NM_000718.4

p.R2028Q

c.6083G>A

2 papers

NM_000718.4

p.R2041H

c.6122G>A

2 papers

NM_000718.4

p.R2058H

c.6173G>A