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.A53E

c.158C>A

Surrounding Variants

2 papers

NM_000718.4

p.A53V

c.158C>T

1 paper

NM_000718.4

p.A53T

c.157G>A

1 paper

NM_000718.4

p.M56_I62ins2

c.166_186dup21

1 paper

NM_000718.4

p.A50E

c.149C>A

1 paper

NM_000718.4

p.A50V

c.149C>T

1 paper

NM_000718.4

p.A57V

c.170C>T

1 paper

NM_000718.4

p.I49F

c.145A>T

1 paper

NM_000718.4

p.L58V

c.172C>G

1 paper

NM_000718.4

p.S48L

c.143C>T

1 paper

NM_000718.4

p.S48fs

c.142_143fs

1 paper

NM_000718.4

p.S48insFs

c.142dupT

1 paper

NM_000718.4

p.Q47E

c.139C>G