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

5 papers

NM_001127221.2

p.D715E

c.2145C>A

Surrounding Variants

5 papers

NM_001127221.2

p.D715E

c.2145C>G

1 paper

NM_001127222.2

p.N715S

c.2144A>G

1 paper

NM_001127222.2

p.V713V

c.2139G>A

5 papers

NM_001127221.2

p.V714A

c.2141T>C

16 papers

NM_001127222.2

p.V713M

c.2137G>A

NM_001127221.2

p.V714M

c.2140G>A

20 papers

NM_023035.3

p.A713T

c.2137G>A

NM_001127222.2

p.A712T

c.2134G>A

3 papers

NM_001127222.2

p.I711M

c.2133C>G

NM_001127221.2

p.I712M

c.2136C>G

1 paper

NM_001127222.2

p.A717A

c.2151C>A

1 paper

NM_001127221.2

p.I712V

c.2134A>G

1 paper

NM_001127222.2

p.A710D

c.2129C>A

6 papers

NM_001127222.2

p.A710T

c.2128G>A

1 paper

NM_001127222.2

p.F708L

c.2124C>G