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

6 papers

NM_021096.4

p.I860N

c.2579T>A

Surrounding Variants

4 papers

NM_021096.4

p.I860M

c.2580C>G

1 paper

NM_021096.4

p.A859S

c.2575G>T

1 paper

NM_021096.4

p.A867A

c.2601G>A

1 paper

NM_021096.4

p.S839C

c.2516C>G

1 paper

NM_021096.4

p.A832G

c.2495C>G

1 paper

NM_021096.4

p.V826I

c.2476G>A

1 paper

NM_021096.4

p.V825I

c.2473G>A

1 paper

NM_021096.4

p.I817V

c.2449A>G

1 paper

NM_021096.4

p.Q816_I817Splc

c.2449-6C>T

1 paper

NM_021096.4

p.D805N

c.2413G>A

4 papers

NM_021096.4

p.T797M

c.2390C>T

1 paper

NM_021096.4

p.R873C

c.2617C>T