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.E1119*

c.3355G>T

Surrounding Variants

1 paper

NM_000719.7

p.E1119A

c.3356A>C

2 papers

NM_000719.7

p.E1115A

c.3344A>C

25 papers

NM_000719.7

p.E1115K

c.3343G>A

1 paper

NM_000719.7

p.V1111I

c.3331G>A

1 paper

NM_000719.7

p.D1099N

c.3295G>A

1 paper

NM_000719.7

p.E1080K

c.3238G>A

1 paper

NM_000719.7

p.D1078E

c.3234C>A

1 paper

NM_000719.7

p.D1078E

c.3234C>G

1 paper

NM_000719.7

p.D1078delFs

c.3234delC

1 paper

NM_000719.7

p.D1078fs

c.3232_3233fs

1 paper

NM_000719.7

p.I1074V

c.3220A>G

1 paper

NM_000719.7

p.E1119Splc

c.3356+180C>T