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

2 papers

NM_000718.4

p.S160F

c.479C>T

Surrounding Variants

1 paper

NM_000718.4

p.R163Q

c.488G>A

7 papers

NM_000718.4

p.G165V

c.494G>T

21 papers

NM_000718.4

p.N167K

c.501C>A

21 papers

NM_000718.4

p.N167K

c.501C>G

1 paper

NM_000718.4

p.A151T

c.451G>A

1 paper

NM_000718.4

p.V172L

c.514G>C

1 paper

NM_000718.4

p.V172L

c.514G>T

1 paper

NM_000718.4

p.V172V

c.516G>A

1 paper

NM_000718.4

p.I147F

c.439A>T

1 paper

NM_000718.4

p.G146R

c.436G>A

1 paper

NM_000718.4

p.T176S

c.526A>T

1 paper

NM_000718.4

p.G177E

c.530G>A