Varaico: Literature-Extracted Genetic Variants

CACNA1H

566 papers

RefSeq Summary

This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon memb...

Pfam Domains

Ion_transaa 99–430UCSCIon transport protein

Ion_transaa 792–1026UCSCIon transport protein

Ion_transaa 1293–1566UCSCIon transport protein

Ion_transaa 1616–1871UCSCIon transport protein

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 H

HGNC Alias Symbol

Cav3.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

16 papers

NM_021098.3

p.V831M

c.2491G>A

Surrounding Variants

1 paper

NM_021098.3

p.T833A

c.2497A>G

1 paper

NM_021098.3

p.A837S

c.2509G>T

1 paper

NM_021098.3

p.A824T

c.2470G>A

1 paper

NM_021098.3

p.A824S

c.2470G>T

4 papers

NM_021098.3

p.E819K

c.2455G>A

1 paper

NM_021098.3

p.E819*

c.2455G>T

1 paper

NM_021098.3

p.A846D

c.2537C>A

1 paper

NM_021098.3

p.A846V

c.2537C>T

2 papers

NM_021098.3

p.C847F

c.2540G>T

11 papers

NM_021098.3

p.G848S

c.2542G>A

2 papers

NM_021098.3

p.P849S

c.2545C>T

1 paper

NM_021098.3

p.R854Q

c.2561G>A