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.T1037fs

c.3109_3110fs

Surrounding Variants

1 paper

NM_000719.7

p.M1042V

c.3124A>G

1 paper

NM_000719.7

p.N1031Y

c.3091A>T

2 papers

NM_000719.7

p.C1045insFs

c.3133_3134insC

1 paper

NM_000719.7

p.C1045insFs

c.3134_3135insC

1 paper

NM_000719.7

p.T1028_I1029insGGG

c.3082_3086ins9

1 paper

NM_000719.7

p.R1027L

c.3080G>T

1 paper

NM_000719.7

p.R1027W

c.3079C>T

2 papers

NM_000719.7

p.G1047R

c.3139G>A

2 papers

NM_000719.7

p.G1047R

c.3139G>C

3 papers

NM_000719.7

p.C1021Y

c.3062G>A

10 papers

NM_000719.7

p.C1021R

c.3061T>C

1 paper

NM_000719.7

p.K1052_G1053Splc

c.3156+17G>A