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.K88I

c.263A>T

Surrounding Variants

1 paper

NM_000719.7

p.G87W

c.259G>T

1 paper

NM_000719.7

p.Y86C

c.257A>G

1 paper

NM_000719.7

p.Y86F

c.257A>T

1 paper

NM_000719.7

p.K91E

c.271A>G

2 papers

NM_000719.7

p.Q92P

c.275A>C

1 paper

NM_000719.7

p.Q84R

c.251A>G

2 papers

NM_000719.7

p.R83Q

c.248G>A

1 paper

NM_000719.7

p.R83W

c.247C>T

1 paper

NM_000719.7

p.R81_K82insFs

c.243_244insC

1 paper

NM_000719.7

p.T95I

c.284C>T

2 papers

NM_000719.7

p.R81Q

c.242G>A

1 paper

NM_000719.7

p.Q80R

c.239A>G