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

1 paper

NM_021098.3

p.A600V

c.1799C>T

Surrounding Variants

2 papers

NM_021098.3

p.A598V

c.1793C>T

1 paper

NM_021098.3

p.R603R

c.1807A>C

1 paper

NM_021098.3

p.R603R

c.1809A>G

1 paper

NM_021098.3

p.A605V

c.1814C>T

1 paper

NM_021098.3

p.A595T

c.1783G>A

1 paper

NM_021098.3

p.H593_T597del0

c.1778_1789del12

1 paper

NM_021098.3

p.G609D

c.1826G>A

1 paper

NM_021098.3

p.R590W

c.1768C>T

1 paper

NM_021098.3

p.Y613F

c.1838A>T

1 paper

NM_021098.3

p.Q586E

c.1756C>G

3 papers

NM_021098.3

p.T615P

c.1843A>C

3 papers

NM_021098.3

p.T615M

c.1844C>T