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.C251S

c.752G>C

Surrounding Variants

1 paper

NM_001205293.3

p.C251Y

c.752G>A

1 paper

NM_001205293.3

p.C251S

c.751T>A

1 paper

NM_001205293.3

p.A250S

c.748G>T

2 papers

NM_001205293.3

p.R249G

c.745C>G

1 paper

NM_001205293.3

p.G257C

c.769G>T

1 paper

NM_001205293.3

p.G257Splc

c.769+1G>A

1 paper

NM_001205293.3

p.G245insFs

c.735dupC

1 paper

NM_001205293.3

p.G245V

c.734G>T

1 paper

NM_001205293.3

p.G257V

c.770G>T

1 paper

NM_001205293.3

p.G245S

c.733G>A

1 paper

NM_001205293.3

p.I237F

c.709A>T

1 paper

NM_001205293.3

p.M234I

c.702G>A