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.P100T

c.298C>A

Surrounding Variants

1 paper

NM_000719.7

p.P100L

c.299C>T

1 paper

NM_000719.7

p.P100P

c.300G>T

2 papers

NM_000719.7

p.R102*

c.304C>T

1 paper

NM_000719.7

p.A97A

c.291C>A

2 papers

NM_000719.7

p.R102R

c.306A>T

1 paper

NM_000719.7

p.A103V

c.308C>T

4 papers

NM_000719.7

p.T96M

c.287C>T

1 paper

NM_000719.7

p.T95I

c.284C>T

1 paper

NM_000719.7

p.L105I

c.313C>A

1 paper

NM_000719.7

p.L105F

c.313C>T

1 paper

NM_000719.7

p.C106R

c.316T>C

1 paper

NM_000719.7

p.L107L

c.319C>T