Varaico: Literature-Extracted Genetic Variants

CACNA1A

1,183 papers

RefSeq Summary

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or n...

Pfam Domains

Ion_transaa 97–371UCSCIon transport protein

Ion_transaa 486–725UCSCIon transport protein

Ion_transaa 1242–1520UCSCIon transport protein

Ion_transaa 1564–1821UCSCIon transport protein

GPHHaa 1830–1883UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1893–1970UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 A

HGNC Previous Symbols

CACNL1A4; SCA6; MHP1; MHP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001127222.2

p.K217insFs

c.649_650insC

Surrounding Variants

1 paper

NM_001127222.2

p.K217insFs

c.650_651insC

1 paper

NM_001127222.2

p.L216insFs

c.646dupC

1 paper

NM_001127222.2

p.K217K

c.651G>A

1 paper

NM_001127222.2

p.S218insFs

c.652_653insG

2 papers

NM_001127222.2

p.S218P

c.652T>C

1 paper

NM_001127222.2

p.S218T

c.652T>A

176 papers

NM_001127222.2

p.S218L

c.653C>T

1 paper

NM_001127222.2

p.V215F

c.643G>T

3 papers

NM_001127222.2

p.I219V

c.655A>G

1 paper

NM_001127222.2

p.A222V

c.665C>T

1 paper

NM_001127222.2

p.S211Splc

c.632-1G>A

1 paper

NM_001127222.2

p.P225R

c.674C>G