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.G304R

c.910G>A

Surrounding Variants

1 paper

NM_021096.4

p.G304R

c.910G>C

7 papers

NM_021096.4

p.D302G

c.905A>G

1 paper

NM_021096.4

p.R307C

c.919C>T

4 papers

NM_021096.4

p.R307H

c.920G>A

2 papers

NM_021096.4

p.G314S

c.940G>A

1 paper

NM_021096.4

p.G314delFs

c.942delC

1 paper

NM_021096.4

p.R291H

c.872G>A

1 paper

NM_021096.4

p.N324S

c.971A>G

1 paper

NM_021096.4

p.V325M

c.973G>A

1 paper

NM_021096.4

p.V325fs

c.973_974fs

1 paper

NM_021096.4

p.E282K

c.844G>A

1 paper

NM_021096.4

p.H281Q

c.843T>A