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.S777Splc

c.2330+129T>C

Surrounding Variants

1 paper

NM_021096.4

p.L769F

c.2305C>T

1 paper

NM_021096.4

p.V753fs

c.2257_2258fs

1 paper

NM_021096.4

p.R750H

c.2249G>A

1 paper

NM_021096.4

p.R749Q

c.2246G>A

4 papers

NM_021096.4

p.T797M

c.2390C>T

1 paper

NM_021096.4

p.V738M

c.2212G>A

1 paper

NM_021096.4

p.D805N

c.2413G>A

2 papers

NM_021096.4

p.I719I

c.2157T>C

1 paper

NM_021096.4

p.E718Q

c.2152G>C

1 paper

NM_021096.4

p.S715Splc

c.2145-20C>T

1 paper

NM_021096.4

p.Q816_I817Splc

c.2449-6C>T

1 paper

NM_021096.4

p.I817V

c.2449A>G