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

1–12 of 320 variants

9 papers

NM_021096.4

p.R1346H

c.4037G>A

7 papers

NM_021096.4

p.D302G

c.905A>G

6 papers

NM_021096.4

p.I860N

c.2579T>A

6 papers

NM_021096.4

p.I1040V

c.3118A>G

5 papers

NM_021096.4

p.R111G

c.331C>G

5 papers

NM_021096.4

p.I1306T

c.3917T>C

4 papers

NM_021096.4

p.R307H

c.920G>A

4 papers

NM_021096.4

p.R327H

c.980G>A

4 papers

NM_021096.4

p.T797M

c.2390C>T

4 papers

NM_021096.4

p.I860M

c.2580C>G

4 papers

NM_021096.4

p.M1109L

c.3325A>C

4 papers

NM_021096.4

p.M1109L

c.3325A>T