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_023035.3

p.L1357R

c.4070T>G

Surrounding Variants

3 papers

NM_001127222.2

p.P1352_L1353insFs

c.4056_4057insG

2 papers

NM_001127222.2

p.P1352L

c.4055C>T

NM_001127221.2

p.P1353L

c.4058C>T

2 papers

NM_001127222.2

p.P1352S

c.4054C>T

1 paper

NM_001127222.2

p.P1352A

c.4054C>G

8 papers

NM_001127221.2

p.R1352Q

c.4055G>A

NM_001127222.2

p.R1351Q

c.4052G>A

1 paper

NM_001127222.2

p.T1355I

c.4064C>T

1 paper

NM_001127222.2

p.T1355N

c.4064C>A

4 papers

NM_001127222.2

p.R1351*

c.4051C>T

1 paper

NM_001127221.2

p.I1357S

c.4070T>G

2 papers

NM_001127222.2

p.V1349L

c.4045G>T

2 papers

NM_001127222.2

p.V1349L

c.4045G>C

1 paper

NM_001127222.2

p.R1358G

c.4072C>G