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

5 papers

NM_000718.4

p.T996A

c.2986A>G

Surrounding Variants

1 paper

NM_000718.4

p.T996fs

c.2986_2987fs

1 paper

NM_000718.4

p.T996delFs

c.2986delA

1 paper

NM_000718.4

p.T997A

c.2989A>G

1 paper

NM_000718.4

p.T997M

c.2990C>T

3 papers

NM_000718.4

p.V992_T997del0

c.2976_2990del15

3 papers

NM_000718.4

p.V992_T997del6

c.2974_2990del18

1 paper

NM_000718.4

p.R982W

c.2944C>T

1 paper

NM_000718.4

p.E1010D

c.3030A>C

1 paper

NM_000718.4

p.E1010D

c.3030A>T

1 paper

NM_000718.4

p.P975P

c.2925G>C

1 paper

NM_000718.4

p.R1018delFs

c.3052delC

1 paper

NM_000718.4

p.R1018fs

c.3052_3053fs