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.I335N

c.1004T>A

Surrounding Variants

1 paper

NM_001205293.3

p.P333H

c.998C>A

1 paper

NM_001205293.3

p.I332I

c.996C>T

1 paper

NM_001205293.3

p.G338A

c.1013G>C

1 paper

NM_001205293.3

p.G338V

c.1013G>T

1 paper

NM_001205293.3

p.L329L

c.985C>T

1 paper

NM_001205293.3

p.W328G

c.982T>G

1 paper

NM_001205293.3

p.N327insFs

c.979_980insGC

1 paper

NM_001205293.3

p.W326insFs

c.976_977insAC

2 papers

NM_001205293.3

p.A324D

c.971C>A

1 paper

NM_001205293.3

p.G323R

c.967G>C

6 papers

NM_001205293.3

p.G348R

c.1042G>A

6 papers

NM_001205293.3

p.G348R

c.1042G>C