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

1–12 of 401 variants

21 papers

NM_000718.4

p.N167K

c.501C>A

21 papers

NM_000718.4

p.N167K

c.501C>G

13 papers

NM_000718.4

p.R1389H

c.4166G>A

7 papers

NM_000718.4

p.G165V

c.494G>T

5 papers

NM_000718.4

p.M1ins16

c.2_3ins48

5 papers

NM_000718.4

p.A862S

c.2584G>T

5 papers

NM_000718.4

p.T996A

c.2986A>G

4 papers

NM_000718.4

p.A2006V

c.6017C>T

3 papers

NM_000718.4

p.K89E

c.265A>G

3 papers

NM_000718.4

p.W331_W333del0

c.992_997del6

3 papers

NM_000718.4

p.R383*

c.1147C>T

3 papers

NM_000718.4

p.R477C

c.1429C>T