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

1–12 of 655 variants

19 papers

NM_001205293.3

p.G352R

c.1054G>A

18 papers

NM_001205293.3

p.G352R

c.1054G>C

13 papers

NM_001205293.3

p.A1955T

c.5863G>A

12 papers

NM_001205293.3

p.A702T

c.2104G>A

8 papers

NM_001205293.3

p.I603L

c.1807A>C

8 papers

NM_001205293.3

p.F698S

c.2093T>C

7 papers

NM_001205293.3

p.Q652L

c.1955A>T

7 papers

NM_001205293.3

p.I701V

c.2101A>G

7 papers

NM_001205293.3

p.D859E

c.2577T>A

7 papers

NM_001205293.3

p.D859E

c.2577T>G

6 papers

NM_001205293.3

p.L228P

c.683T>C

6 papers

NM_001205293.3

p.G348R

c.1042G>A