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.I391L

c.1171A>C

Surrounding Variants

1 paper

NM_000719.7

p.I391L

c.1171A>T

1 paper

NM_000719.7

p.G392R

c.1174G>A

1 paper

NM_000719.7

p.G392R

c.1174G>C

1 paper

NM_000719.7

p.I389V

c.1165A>G

1 paper

NM_000719.7

p.L388V

c.1162C>G

1 paper

NM_000719.7

p.T387R

c.1160C>G

2 papers

NM_000719.7

p.V396L

c.1186G>C

1 paper

NM_000719.7

p.V386F

c.1156G>T

1 paper

NM_000719.7

p.V396L

c.1186G>T

1 paper

NM_000719.7

p.L397_N398delFs

c.1189_1192del4

1 paper

NM_000719.7

p.L397delFs

c.1189_1190delCT

1 paper

NM_000719.7

p.I383M

c.1149C>G