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.K1052_G1053Splc

c.3157-10T>C

Surrounding Variants

1 paper

NM_000719.7

p.K1052_G1053Splc

c.3157-7C>T

1 paper

NM_000719.7

p.K1052_G1053Splc

c.3157-16G>C

1 paper

NM_000719.7

p.G1053delFs

c.3158delG

2 papers

NM_000719.7

p.K1054R

c.3161A>G

2 papers

NM_000719.7

p.Y1056insFs

c.3167_3168insC

1 paper

NM_000719.7

p.K1052_G1053Splc

c.3157-51T>C

1 paper

NM_000719.7

p.A1067E

c.3200C>A

2 papers

NM_000719.7

p.A1067V

c.3200C>T

1 paper

NM_000719.7

p.K1052_G1053Splc

c.3157-90A>G

1 paper

NM_000719.7

p.K1052_G1053Splc

c.3157-175C>T

1 paper

NM_000719.7

p.K1070Splc

c.3209+112G>A

1 paper

NM_000719.7

p.K1070Splc

c.3209+129T>C