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.V474I

c.1420G>A

Surrounding Variants

1 paper

NM_000719.7

p.V474F

c.1420G>T

1 paper

NM_000719.7

p.S473T

c.1417T>A

1 paper

NM_000719.7

p.E472K

c.1414G>A

2 papers

NM_000719.7

p.T471N

c.1412C>A

1 paper

NM_000719.7

p.E477K

c.1429G>A

1 paper

NM_000719.7

p.E470D

c.1410G>C

1 paper

NM_000719.7

p.E470D

c.1410G>T

1 paper

NM_000719.7

p.S469T

c.1406G>C

1 paper

NM_000719.7

p.V479M

c.1435G>A

1 paper

NM_000719.7

p.T468N

c.1403C>A

1 paper

NM_000719.7

p.A480T

c.1438G>A

1 paper

NM_000719.7

p.P467L

c.1400C>T