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.L245S

c.734T>C

Surrounding Variants

3 papers

NM_001127222.2

p.Y248N

c.742T>A

7 papers

NM_001127222.2

p.Y248C

c.743A>G

1 paper

NM_001127222.2

p.G250R

c.748G>C

1 paper

NM_001127222.2

p.G250R

c.748G>A

2 papers

NM_001127222.2

p.G250fs

c.748_749fs

1 paper

NM_001127222.2

p.G250G

c.750A>G

1 paper

NM_001127222.2

p.G250fs

c.748_749fs

2 papers

NM_001127222.2

p.G250delFs

c.749delC

2 papers

NM_001127222.2

p.I239fs

c.715_716fs

1 paper

NM_001127222.2

p.I239F

c.715A>T

2 papers

NM_001127222.2

p.L238delFs

c.714delA

2 papers

NM_001127222.2

p.L238fs

c.712_713fs