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.P277S

c.829C>T

Surrounding Variants

1 paper

NM_001127222.2

p.A278S

c.832G>T

1 paper

NM_001127222.2

p.A278T

c.832G>A

15 papers

NM_001127222.2

p.R279C

c.835C>T

1 paper

NM_001127222.2

p.G273_T274insFs

c.819_820insT

1 paper

NM_001127222.2

p.G273W

c.817G>T

1 paper

NM_001127222.2

p.C281delFs

c.841delA

4 papers

NM_001127222.2

p.C272Y

c.815G>A

1 paper

NM_001127222.2

p.P282L

c.845C>T

1 paper

NM_001127222.2

p.P271S

c.811C>T

3 papers

NM_001127222.2

p.N283S

c.848A>G

2 papers

NM_001127222.2

p.A270V

c.809C>T

1 paper

NM_001127222.2

p.T280_N283del4

c.838_848del12