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

3 papers

NM_021096.4

p.M128L

c.382A>C

Surrounding Variants

3 papers

NM_021096.4

p.M128L

c.382A>T

1 paper

NM_021096.4

p.F121F

c.363C>T

1 paper

NM_021096.4

p.V158I

c.472G>A

1 paper

NM_021096.4

p.G161Splc

c.482+34T>C

5 papers

NM_021096.4

p.R111G

c.331C>G

1 paper

NM_021096.4

p.D103H

c.307G>C

1 paper

NM_021096.4

p.Q100K

c.298C>A

1 paper

NM_021096.4

p.P79Splc

c.237-51A>G