Varaico: Literature-Extracted Genetic Variants

CACNA1I

205 papers

RefSeq Summary

This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-typ...

Pfam Domains

Ion_transaa 78–409UCSCIon transport protein

Ion_transaa 639–873UCSCIon transport protein

Ion_transaa 1169–1442UCSCIon transport protein

Ion_transaa 1486–1741UCSCIon transport protein

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 I

HGNC Alias Symbol

Cav3.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021096.4

p.F1246L

c.3738T>A

Surrounding Variants

1 paper

NM_021096.4

p.F1246L

c.3738T>G

1 paper

NM_021096.4

p.F1246L

c.3736T>C

1 paper

NM_021096.4

p.A1234V

c.3701C>T

1 paper

NM_021096.4

p.G1231S

c.3691G>A

1 paper

NM_021096.4

p.G1227S

c.3679G>A

1 paper

NM_021096.4

p.S1225A

c.3673T>G

1 paper

NM_021096.4

p.R1272G

c.3814C>G

1 paper

NM_021096.4

p.S1287N

c.3860G>A

1 paper

NM_021096.4

p.S1207F

c.3620C>T

1 paper

NM_021096.4

p.R1201insFs

c.3603dupC

5 papers

NM_021096.4

p.I1306T

c.3917T>C

1 paper

NM_021096.4

p.G1321V

c.3962G>T