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

1–12 of 1330 variants

250 papers

NM_000719.7

p.G406R

c.1216G>A

242 papers

NM_000719.7

p.G406R

c.1216G>C

120 papers

NM_000719.7

p.G402S

c.1204G>A

58 papers

NM_000719.7

p.G490R

c.1468G>C

57 papers

NM_000719.7

p.G490R

c.1468G>A

54 papers

NM_000719.7

p.A39V

c.116C>T

40 papers

NM_000719.7

p.R518C

c.1552C>T

40 papers

NM_000719.7

p.R858H

c.2573G>A

32 papers

NM_000719.7

p.I1166T

c.3497T>C

27 papers

NM_000719.7

p.P857R

c.2570C>G

25 papers

NM_000719.7

p.R518H

c.1553G>A

25 papers

NM_000719.7

p.E1115K

c.3343G>A