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.E2101*

c.6301G>T

Surrounding Variants

1 paper

NM_000718.4

p.R2104S

c.6310C>A

1 paper

NM_000718.4

p.G2097D

c.6290G>A

1 paper

NM_000718.4

p.R2110W

c.6328C>T

1 paper

NM_000718.4

p.P2091L

c.6272C>T

1 paper

NM_000718.4

p.R2114W

c.6340C>T

1 paper

NM_000718.4

p.G2088W

c.6262G>T

1 paper

NM_000718.4

p.P2087Q

c.6260C>A

2 papers

NM_000718.4

p.P2087L

c.6260C>T

1 paper

NM_000718.4

p.S2122L

c.6365C>T

1 paper

NM_000718.4

p.R2126H

c.6377G>A

1 paper

NM_000718.4

p.Y2128N

c.6382T>A

1 paper

NM_000718.4

p.S2129T

c.6385T>A