Varaico: Literature-Extracted Genetic Variants

CACNA1E

494 papers

RefSeq Summary

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitab...

Pfam Domains

Ion_transaa 88–362UCSCIon transport protein

Ion_transaa 475–714UCSCIon transport protein

Ion_transaa 1152–1433UCSCIon transport protein

Ion_transaa 1477–1734UCSCIon transport protein

GPHHaa 1743–1796UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1806–1883UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 E

HGNC Previous Symbol

CACNL1A6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001205293.3

p.P894S

c.2680C>T

Surrounding Variants

1 paper

NM_001205293.3

p.P894P

c.2682G>A

1 paper

NM_001205293.3

p.G890E

c.2669G>A

1 paper

NM_001205293.3

p.E903G

c.2708A>G

1 paper

NM_001205293.3

p.P882S

c.2644C>T

1 paper

NM_001205293.3

p.V906G

c.2717T>G

1 paper

NM_001205293.3

p.R879W

c.2635C>T

1 paper

NM_001205293.3

p.Q878*

c.2632C>T

1 paper

NM_001205293.3

p.R911Q

c.2732G>A

2 papers

NM_001205293.3

p.A912T

c.2734G>A

1 paper

NM_001205293.3

p.R919Q

c.2756G>A

1 paper

NM_001205293.3

p.S921_R922del2

c.2761_2765del6

1 paper

NM_001205293.3

p.L867insFs

c.2599_2600insT