Varaico: Literature-Extracted Genetic Variants

CACNA1C

1,026 papers

RefSeq Summary

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists ...

Pfam Domains

Ion_transaa 123–416UCSCIon transport protein

Ion_transaa 523–764UCSCIon transport protein

Ion_transaa 899–1177UCSCIon transport protein

Ion_transaa 1218–1487UCSCIon transport protein

GPHHaa 1496–1549UCSCVoltage-dependent L-type calcium channel, IQ-associated

Ca_chan_IQaa 1559–1633UCSCVoltage gated calcium channel IQ domain

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 C

HGNC Previous Symbols

CCHL1A1; CACNL1A1; CACNA1C-IT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000719.7

p.A494Splc

c.1481+6T>G

Surrounding Variants

1 paper

NM_000719.7

p.A494V

c.1481C>T

3 papers

NM_000719.7

p.L493M

c.1477C>A

1 paper

NM_000719.7

p.A494Splc

c.1481+16G>A

1 paper

NM_000719.7

p.A491V

c.1472C>T

1 paper

NM_000719.7

p.G490E

c.1469G>A

57 papers

NM_000719.7

p.G490R

c.1468G>A

58 papers

NM_000719.7

p.G490R

c.1468G>C

1 paper

NM_000719.7

p.N488I

c.1463A>T

1 paper

NM_000719.7

p.E485K

c.1453G>A

1 paper

NM_000719.7

p.G482R

c.1444G>C

1 paper

NM_000719.7

p.G481R

c.1441G>A

1 paper

NM_000719.7

p.G481R

c.1441G>C