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

25 papers

NM_000719.7

p.R518H

c.1553G>A

Surrounding Variants

40 papers

NM_000719.7

p.R518C

c.1552C>T

1 paper

NM_000719.7

p.R518R

c.1554C>T

3 papers

NM_000719.7

p.A519T

c.1555G>A

1 paper

NM_000719.7

p.A519P

c.1555G>C

1 paper

NM_000719.7

p.A519A

c.1557C>T

4 papers

NM_000719.7

p.A520T

c.1558G>A

1 paper

NM_000719.7

p.R514G

c.1540A>G

1 paper

NM_000719.7

p.F512V

c.1534T>G

4 papers

NM_000719.7

p.R511Q

c.1532G>A

1 paper

NM_000719.7

p.W528G

c.1582T>G

5 papers

NM_000719.7

p.R508Q

c.1523G>A

1 paper

NM_000719.7

p.W528*

c.1583G>A