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.A59S

c.175G>T

Surrounding Variants

1 paper

NM_000719.7

p.A59T

c.175G>A

1 paper

NM_000719.7

p.A59V

c.176C>T

1 paper

NM_000719.7

p.R60W

c.178C>T

2 papers

NM_000719.7

p.A58T

c.172G>A

1 paper

NM_000719.7

p.D57D

c.171C>T

1 paper

NM_000719.7

p.A58_A59del1

c.174_176delAGC

1 paper

NM_000719.7

p.R60Q

c.179G>A

1 paper

NM_000719.7

p.Q61K

c.181C>A

2 papers

NM_000719.7

p.D57N

c.169G>A

1 paper

NM_000719.7

p.Q61P

c.182A>C

1 paper

NM_000719.7

p.I56N

c.167T>A

1 paper

NM_000719.7

p.K63E

c.187A>G