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.L1397F

c.4189C>T

Surrounding Variants

5 papers

NM_001127221.2

p.V1396M

c.4186G>A

NM_001127222.2

p.V1395M

c.4183G>A

NM_023035.3

p.V1399M

c.4195G>A

2 papers

NM_001127222.2

p.V1393L

c.4177G>T

2 papers

NM_001127222.2

p.V1393L

c.4177G>C

20 papers

NM_001127222.2

p.V1393M

c.4177G>A

1 paper

NM_023035.3

p.V1396V

c.4188G>A

1 paper

NM_001127221.2

p.V1393A

c.4178T>C

1 paper

NM_001127221.2

p.V1393L

c.4177G>T

20 papers

NM_023035.3

p.V1396M

c.4186G>A

NM_001127222.2

p.V1392M

c.4174G>A

NM_001127221.2

p.V1393M

c.4177G>A

2 papers

NM_023035.3

p.F1406C

c.4217T>G

1 paper

NM_023035.3

p.F1394delFs

c.4182delG

2 papers

NM_001127222.2

p.F1403C

c.4208T>G

1 paper

NM_023035.3

p.F1394L

c.4182C>G