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.I559_P562del4

c.1675_1685del12

Surrounding Variants

1 paper

NM_001205293.3

p.V556I

c.1666G>A

1 paper

NM_001205293.3

p.G563_T564del2

c.1687_1691del6

1 paper

NM_001205293.3

p.G567insFs

c.1699dupG

1 paper

NM_001205293.3

p.S569C

c.1705A>T

1 paper

NM_001205293.3

p.G546_V547Splc

c.1639-1G>T

2 papers

NM_001205293.3

p.R572Q

c.1715G>A

1 paper

NM_001205293.3

p.R575Q

c.1724G>A

1 paper

NM_001205293.3

p.K581Q

c.1741A>C

5 papers

NM_001205293.3

p.R590W

c.1768C>T

1 paper

NM_001205293.3

p.R590Q

c.1769G>A

1 paper

NM_001205293.3

p.V593G

c.1778T>G

1 paper

NM_001205293.3

p.V594G

c.1781T>G