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.M853I

c.2559G>T

Surrounding Variants

1 paper

NM_000719.7

p.M853I

c.2559G>A

1 paper

NM_000719.7

p.M853I

c.2559G>C

1 paper

NM_000719.7

p.M853T

c.2558T>C

1 paper

NM_000719.7

p.M853V

c.2557A>G

1 paper

NM_000719.7

p.P854R

c.2561C>G

1 paper

NM_000719.7

p.P854L

c.2561C>T

2 papers

NM_000719.7

p.E852D

c.2556G>C

1 paper

NM_000719.7

p.E852D

c.2556G>T

2 papers

NM_000719.7

p.G856S

c.2566G>A

1 paper

NM_000719.7

p.G856D

c.2567G>A

2 papers

NM_000719.7

p.E850D

c.2550G>C

2 papers

NM_000719.7

p.E850D

c.2550G>T