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

11 papers

NM_021098.3

p.R1871Q

c.5612G>A

NM_001005407.2

p.R1865Q

c.5594G>A

Surrounding Variants

1 paper

NM_021098.3

p.A1870T

c.5608G>A

8 papers

NM_021098.3

p.A1874V

c.5621C>T

1 paper

NM_021098.3

p.E1865K

c.5593G>A

1 paper

NM_021098.3

p.E1881K

c.5641G>A

1 paper

NM_021098.3

p.E1883K

c.5647G>A

1 paper

NM_021098.3

p.A1857_V1858del2

c.5569_5573del6

1 paper

NM_021098.3

p.P1888L

c.5663C>T

1 paper

NM_021098.3

p.G1889R

c.5665G>A

1 paper

NM_021098.3

p.G1889R

c.5665G>C

10 papers

NM_021098.3

p.R1892H

c.5675G>A

1 paper

NM_021098.3

p.V1850M

c.5548G>A

1 paper

NM_021098.3

p.R1893W

c.5677C>T