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.E41G

c.122A>G

Surrounding Variants

1 paper

NM_000719.7

p.E41V

c.122A>T

2 papers

NM_000719.7

p.E41K

c.121G>A

1 paper

NM_000719.7

p.H42L

c.125A>T

54 papers

NM_000719.7

p.A39V

c.116C>T

1 paper

NM_000719.7

p.P44A

c.130C>G

1 paper

NM_000719.7

p.T45N

c.134C>A

12 papers

NM_000719.7

p.G37R

c.109G>A

12 papers

NM_000719.7

p.G37R

c.109G>C

5 papers

NM_000719.7

p.A36V

c.107C>T

1 paper

NM_000719.7

p.P46L

c.137C>T

1 paper

NM_000719.7

p.P46P

c.138G>A

1 paper

NM_000719.7

p.A35T

c.103G>A