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

8 papers

NM_001205293.3

p.I603L

c.1807A>C

Surrounding Variants

1 paper

NM_001205293.3

p.M600L

c.1798A>T

1 paper

NM_001205293.3

p.S598G

c.1792A>G

1 paper

NM_001205293.3

p.S598delFs

c.1793_1794delGC

1 paper

NM_001205293.3

p.V594G

c.1781T>G

1 paper

NM_001205293.3

p.V593G

c.1778T>G

1 paper

NM_001205293.3

p.F613L

c.1839C>A

1 paper

NM_001205293.3

p.I614V

c.1840A>G

1 paper

NM_001205293.3

p.R590Q

c.1769G>A

5 papers

NM_001205293.3

p.R590W

c.1768C>T

1 paper

NM_001205293.3

p.F617V

c.1849T>G

1 paper

NM_001205293.3

p.K581Q

c.1741A>C

1 paper

NM_001205293.3

p.R575Q

c.1724G>A