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.E1143D

c.3429G>T

Surrounding Variants

1 paper

NM_021096.4

p.E1143D

c.3429G>C

1 paper

NM_021096.4

p.D1140Y

c.3418G>T

1 paper

NM_021096.4

p.L1152V

c.3454C>G

1 paper

NM_021096.4

p.L1152L

c.3456C>G

1 paper

NM_021096.4

p.I1134V

c.3400A>G

1 paper

NM_021096.4

p.D1123_Y1124del1

c.3369_3371delCTA

4 papers

NM_021096.4

p.M1109L

c.3325A>C

4 papers

NM_021096.4

p.M1109L

c.3325A>T

1 paper

NM_021096.4

p.E1092*

c.3274G>T

1 paper

NM_021096.4

p.H1077Q

c.3231C>A

1 paper

NM_021096.4

p.H1077Q

c.3231C>G

1 paper

NM_021096.4

p.H1077P

c.3230A>C