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.Y20*

c.60T>A

Surrounding Variants

1 paper

NM_000719.7

p.Y20*

c.60T>G

1 paper

NM_000719.7

p.Y20F

c.59A>T

1 paper

NM_000719.7

p.N19Y

c.55A>T

1 paper

NM_000719.7

p.S22I

c.65G>T

1 paper

NM_000719.7

p.S18fs

c.52_53fs

1 paper

NM_000719.7

p.R24C

c.70C>T

1 paper

NM_000719.7

p.G17D

c.50G>A

2 papers

NM_000719.7

p.R24H

c.71G>A

1 paper

NM_000719.7

p.A26T

c.76G>A

1 paper

NM_000719.7

p.A26S

c.76G>T

1 paper

NM_000719.7

p.A26V

c.77C>T

15 papers

NM_000719.7

p.A28T

c.82G>A