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.D1123_Y1124del1

c.3369_3371delCTA

Surrounding Variants

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

1 paper

NM_021096.4

p.R1051C

c.3151C>T

1 paper

NM_021096.4

p.H1050H

c.3150C>T

1 paper

NM_021096.4

p.H1050R

c.3149A>G

1 paper

NM_021096.4

p.A1047A

c.3141G>A

1 paper

NM_021096.4

p.L1046P

c.3137T>C

1 paper

NM_021096.4

p.H1042R

c.3125A>G