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.D302H

c.904G>C

Surrounding Variants

11 papers

NM_001127222.2

p.D302N

c.904G>A

1 paper

NM_001127222.2

p.D302A

c.905A>C

1 paper

NM_001127222.2

p.D302E

c.906C>G

1 paper

NM_001127222.2

p.D302E

c.906C>A

1 paper

NM_001127222.2

p.Q300Q

c.900G>A

1 paper

NM_001127222.2

p.T299_Q300del1

c.897_899delTGA

1 paper

NM_001127222.2

p.Q300*

c.898C>T

1 paper

NM_001127222.2

p.I304delFs

c.911delA

1 paper

NM_001127222.2

p.L305V

c.913C>G

1 paper

NM_001127222.2

p.F306S

c.917T>C

1 paper

NM_001127222.2

p.G297G

c.891G>A

14 papers

NM_001127222.2

p.G297R

c.889G>C