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

6 papers

NM_001205293.3

p.G348R

c.1042G>C

Surrounding Variants

6 papers

NM_001205293.3

p.G348R

c.1042G>A

1 paper

NM_001205293.3

p.G348A

c.1043G>C

1 paper

NM_001205293.3

p.V349M

c.1045G>A

19 papers

NM_001205293.3

p.G352R

c.1054G>A

18 papers

NM_001205293.3

p.G352R

c.1054G>C

1 paper

NM_001205293.3

p.G352W

c.1054G>T

2 papers

NM_001205293.3

p.G352A

c.1055G>C

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.I335N

c.1004T>A

1 paper

NM_001205293.3

p.P333H

c.998C>A

1 paper

NM_001205293.3

p.I332I

c.996C>T