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

1–12 of 1713 variants

176 papers

NM_001127222.2

p.S218L

c.653C>T

161 papers

NM_001127222.2

p.R192Q

c.575G>A

27 papers

NM_001127222.2

p.K1336E

c.4006A>G

26 papers

NM_001127222.2

p.R195K

c.584G>A

26 papers

NM_001127222.2

p.G293R

c.877G>C

26 papers

NM_001127222.2

p.G293R

c.877G>A

20 papers

NM_001127222.2

p.V1393M

c.4177G>A

15 papers

NM_001127222.2

p.R279C

c.835C>T

15 papers

NM_001127222.2

p.C287Y

c.860G>A

15 papers

NM_001127222.2

p.V713M

c.2137G>A

14 papers

NM_001127222.2

p.G297R

c.889G>C

14 papers

NM_001127222.2

p.G297R

c.889G>A