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.N537D

c.1609A>G

Surrounding Variants

2 papers

NM_000719.7

p.F535F

c.1605C>T

1 paper

NM_000719.7

p.E544_W551delFs

c.1631_1652del22

1 paper

NM_000719.7

p.E544fs

c.1630_1631fs

1 paper

NM_000719.7

p.W528*

c.1584G>A

1 paper

NM_000719.7

p.W528C

c.1584G>C

1 paper

NM_000719.7

p.W528C

c.1584G>T

1 paper

NM_000719.7

p.H545Q

c.1635C>A

1 paper

NM_000719.7

p.H545Q

c.1635C>G

1 paper

NM_000719.7

p.W528*

c.1583G>A

1 paper

NM_000719.7

p.W528G

c.1582T>G

5 papers

NM_000719.7

p.N547S

c.1640A>G

2 papers

NM_000719.7

p.N550Y

c.1648A>T