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.A702P

c.2104G>C

Surrounding Variants

12 papers

NM_001205293.3

p.A702T

c.2104G>A

1 paper

NM_001205293.3

p.A702S

c.2104G>T

1 paper

NM_001205293.3

p.A702G

c.2105C>G

1 paper

NM_001205293.3

p.A702V

c.2105C>T

7 papers

NM_001205293.3

p.I701V

c.2101A>G

2 papers

NM_001205293.3

p.V703G

c.2108T>G

1 paper

NM_001205293.3

p.A700G

c.2099C>G

4 papers

NM_001205293.3

p.A700T

c.2098G>A

1 paper

NM_001205293.3

p.D704N

c.2110G>A

1 paper

NM_001205293.3

p.A700S

c.2098G>T

1 paper

NM_001205293.3

p.D704G

c.2111A>G

2 papers

NM_001205293.3

p.F698L

c.2094C>A