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

40 papers

NM_000719.7

p.R858H

c.2573G>A

Surrounding Variants

1 paper

NM_000719.7

p.R858S

c.2572C>A

1 paper

NM_000719.7

p.P857H

c.2570C>A

27 papers

NM_000719.7

p.P857R

c.2570C>G

9 papers

NM_000719.7

p.P857L

c.2570C>T

3 papers

NM_000719.7

p.P857A

c.2569C>G

18 papers

NM_000719.7

p.R860G

c.2578C>G

1 paper

NM_000719.7

p.R860*

c.2578C>T

10 papers

NM_000719.7

p.R860Q

c.2579G>A

1 paper

NM_000719.7

p.G856D

c.2567G>A

2 papers

NM_000719.7

p.R860P

c.2579G>C

2 papers

NM_000719.7

p.G856S

c.2566G>A

1 paper

NM_000719.7

p.P861S

c.2581C>T