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.V1167D

c.3500T>A

Surrounding Variants

2 papers

NM_000719.7

p.V1167A

c.3500T>C

2 papers

NM_000719.7

p.V1167I

c.3499G>A

33 papers

NM_000719.7

p.I1166T

c.3497T>C

NM_199460.4

p.I1186T

c.3557T>C

11 papers

NM_000719.7

p.I1166V

c.3496A>G

1 paper

NM_000719.7

p.G1163G

c.3489C>G

1 paper

NM_001129827.2

p.Q1192L

c.3575A>T

4 papers

NM_000719.7

p.V1162L

c.3484G>C

4 papers

NM_000719.7

p.V1162L

c.3484G>T

1 paper

NM_000719.7

p.Q1175*

c.3523C>T

1 paper

NM_000719.7

p.K1178R

c.3533A>G

1 paper

NM_000719.7

p.A1154V

c.3461C>T

1 paper

NM_000719.7

p.I1152N

c.3455T>A