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.G328D

c.983G>A

Surrounding Variants

1 paper

NM_000718.4

p.N329_T330ins11

c.985_989ins33

3 papers

NM_000718.4

p.W331_W333del0

c.992_997del6

1 paper

NM_000718.4

p.W333R

c.997T>A

1 paper

NM_000718.4

p.F346_V354del9

c.1036_1061del27

1 paper

NM_000718.4

p.A360G

c.1079C>G

1 paper

NM_000718.4

p.R363*

c.1087C>T

1 paper

NM_000718.4

p.V366M

c.1096G>A

1 paper

NM_000718.4

p.R376H

c.1127G>A

1 paper

NM_000718.4

p.R377L

c.1130G>T

1 paper

NM_000718.4

p.E382A

c.1145A>C

3 papers

NM_000718.4

p.R383*

c.1147C>T

1 paper

NM_000718.4

p.Y388S

c.1163A>C