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.I383V

c.1147A>G

Surrounding Variants

1 paper

NM_000719.7

p.I383M

c.1149C>G

1 paper

NM_000719.7

p.W382_Y384del0

c.1146_1151del6

14 papers

NM_000719.7

p.P381S

c.1141C>T

1 paper

NM_000719.7

p.W380*

c.1140G>A

1 paper

NM_000719.7

p.W380*

c.1139G>A

1 paper

NM_000719.7

p.W380L

c.1139G>T

1 paper

NM_000719.7

p.V386F

c.1156G>T

1 paper

NM_000719.7

p.D379E

c.1137C>A

1 paper

NM_000719.7

p.D379E

c.1137C>G

1 paper

NM_000719.7

p.T387R

c.1160C>G

1 paper

NM_000719.7

p.R378M

c.1133G>T

1 paper

NM_000719.7

p.L388V

c.1162C>G