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.L226S

c.677T>C

Surrounding Variants

4 papers

NM_001127222.2

p.L226W

c.677T>G

1 paper

NM_001127222.2

p.L226insFs

c.676_677insC

3 papers

NM_001127222.2

p.L226F

c.678G>T

3 papers

NM_001127222.2

p.L226F

c.678G>C

1 paper

NM_001127222.2

p.L226fs

c.676_677fs

2 papers

NM_001127222.2

p.L226_L227delins

c.678_679delinsCT

2 papers

NM_001127222.2

p.L227R

c.680T>G

1 paper

NM_001127222.2

p.P225R

c.674C>G

4 papers

NM_001127222.2

p.P225H

c.674C>A

1 paper

NM_001127222.2

p.L227delFs

c.681delC

10 papers

NM_001127222.2

p.G230V

c.689G>T

1 paper

NM_001127222.2

p.G230D

c.689G>A