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.L936I

c.2806C>A

Surrounding Variants

1 paper

NM_021096.4

p.A929T

c.2785G>A

1 paper

NM_021096.4

p.S953S

c.2859T>C

1 paper

NM_021096.4

p.R965H

c.2894G>A

1 paper

NM_021096.4

p.S966Y

c.2897C>A

1 paper

NM_021096.4

p.P905L

c.2714C>T

1 paper

NM_021096.4

p.D900Splc

c.2698+9G>A

2 papers

NM_021096.4

p.S897N

c.2690G>A

1 paper

NM_021096.4

p.S986I

c.2957G>T

1 paper

NM_021096.4

p.K890insFs

c.2670dupG

1 paper

NM_021096.4

p.S990R

c.2968A>C

1 paper

NM_021096.4

p.S990R

c.2970C>A

1 paper

NM_021096.4

p.S990R

c.2970C>G