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.E843*

c.2527G>T

Surrounding Variants

1 paper

NM_001205293.3

p.A841A

c.2523C>A

2 papers

NM_001205293.3

p.L838Q

c.2513T>A

1 paper

NM_001205293.3

p.L836Q

c.2507T>A

2 papers

NM_001205293.3

p.E834_L838del0

c.2502_2513del12

1 paper

NM_001205293.3

p.R852_S855delFs

c.2556_2563del8

1 paper

NM_001205293.3

p.E834delFs

c.2500delG

1 paper

NM_001205293.3

p.G853delFs

c.2557delG

1 paper

NM_001205293.3

p.G853fs

c.2557_2558fs

1 paper

NM_001205293.3

p.A832V

c.2495C>T

1 paper

NM_001205293.3

p.S855S

c.2565C>T

1 paper

NM_001205293.3

p.L856F

c.2566C>T

1 paper

NM_001205293.3

p.G858R

c.2572G>A