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

3 papers

NM_021098.3

p.P566T

c.1696C>A

Surrounding Variants

1 paper

NM_021098.3

p.P566S

c.1696C>T

1 paper

NM_021098.3

p.P567delFs

c.1701delC

1 paper

NM_021098.3

p.R564H

c.1691G>A

3 papers

NM_021098.3

p.D568N

c.1702G>A

4 papers

NM_021098.3

p.G563R

c.1687G>C

1 paper

NM_021098.3

p.P560L

c.1679C>T

1 paper

NM_021098.3

p.V572A

c.1715T>C

4 papers

NM_021098.3

p.A555V

c.1664C>T

1 paper

NM_021098.3

p.G554G

c.1662C>T

2 papers

NM_021098.3

p.D579N

c.1735G>A

1 paper

NM_021098.3

p.R552Q

c.1655G>A

2 papers

NM_021098.3

p.R552*

c.1654C>T