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.V1161G

c.3482T>G

Surrounding Variants

1 paper

NM_021096.4

p.R1158S

c.3474G>C

1 paper

NM_021096.4

p.I1166V

c.3496A>G

1 paper

NM_021096.4

p.I1166T

c.3497T>C

1 paper

NM_021096.4

p.R1158Splc

c.3474-18C>T

1 paper

NM_021096.4

p.A1178T

c.3532G>A

2 papers

NM_021096.4

p.Q1193H

c.3579G>C

2 papers

NM_021096.4

p.Q1193H

c.3579G>T

1 paper

NM_021096.4

p.T1199I

c.3596C>T

1 paper

NM_021096.4

p.R1201insFs

c.3603dupC

1 paper

NM_021096.4

p.S1207F

c.3620C>T

1 paper

NM_021096.4

p.L1152L

c.3456C>G

1 paper

NM_021096.4

p.L1152V

c.3454C>G