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

3 papers

NM_000719.7

p.G406A

c.1217G>C

Surrounding Variants

1 paper

NM_000719.7

p.G406E

c.1217G>A

250 papers

NM_000719.7

p.G406R

c.1216G>A

1 paper

NM_000719.7

p.G406Splc

c.1217+1G>A

242 papers

NM_000719.7

p.G406R

c.1216G>C

7 papers

NM_000719.7

p.S405R

c.1215C>A

7 papers

NM_000719.7

p.S405R

c.1215C>G

1 paper

NM_000719.7

p.S405I

c.1214G>T

7 papers

NM_000719.7

p.S405R

c.1213A>C

1 paper

NM_000719.7

p.G406Splc

c.1217+4A>T

4 papers

NM_000719.7

p.V403M

c.1207G>A

1 paper

NM_000719.7

p.G402D

c.1205G>A

120 papers

NM_000719.7

p.G402S

c.1204G>A