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.S51A

c.151T>G

Surrounding Variants

1 paper

NM_000719.7

p.L50L

c.150G>T

1 paper

NM_000719.7

p.W52R

c.154T>A

1 paper

NM_000719.7

p.W52R

c.154T>C

1 paper

NM_000719.7

p.A49D

c.146C>A

1 paper

NM_000719.7

p.A49T

c.145G>A

1 paper

NM_000719.7

p.A48_A49ins8

c.142_146ins24

1 paper

NM_000719.7

p.A55T

c.163G>A

1 paper

NM_000719.7

p.P46P

c.138G>A

1 paper

NM_000719.7

p.P46L

c.137C>T

1 paper

NM_000719.7

p.I56N

c.167T>A

1 paper

NM_000719.7

p.T45N

c.134C>A

2 papers

NM_000719.7

p.D57N

c.169G>A