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

2 papers

NM_001205293.3

p.S1937L

c.5810C>T

Surrounding Variants

1 paper

NM_001205293.3

p.P1936T

c.5806C>A

1 paper

NM_001205293.3

p.P1940P

c.5820A>C

1 paper

NM_001205293.3

p.R1932Q

c.5795G>A

1 paper

NM_001205293.3

p.G1931insFs

c.5791_5792insT

1 paper

NM_001205293.3

p.A1950insFs

c.5848_5849insT

1 paper

NM_001205293.3

p.C1951C

c.5853T>C

13 papers

NM_001205293.3

p.A1955T

c.5863G>A

1 paper

NM_001205293.3

p.A1955D

c.5864C>A

1 paper

NM_001205293.3

p.D1956N

c.5866G>A

1 paper

NM_001205293.3

p.R1963W

c.5887C>T

3 papers

NM_001205293.3

p.R1963Q

c.5888G>A

1 paper

NM_001205293.3

p.L1973L

c.5917T>C