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.S815_P819del5

c.2443_2456del15

Surrounding Variants

1 paper

NM_001205293.3

p.S815_P819del0

c.2445_2456del12

1 paper

NM_001205293.3

p.P813L

c.2438C>T

1 paper

NM_001205293.3

p.P807T

c.2419C>A

1 paper

NM_001205293.3

p.A822A

c.2466C>A

1 paper

NM_001205293.3

p.M805V

c.2413A>G

1 paper

NM_001205293.3

p.P803L

c.2408C>T

1 paper

NM_001205293.3

p.A802V

c.2405C>T

1 paper

NM_001205293.3

p.E800D

c.2400G>C

1 paper

NM_001205293.3

p.E800D

c.2400G>T

1 paper

NM_001205293.3

p.R799*

c.2395A>T

1 paper

NM_001205293.3

p.A832V

c.2495C>T

1 paper

NM_001205293.3

p.E834delFs

c.2500delG