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.S532G

c.1594A>G

Surrounding Variants

1 paper

NM_021098.3

p.Y529H

c.1585T>C

1 paper

NM_021098.3

p.H528_H530ins1

c.1584_1589dup6

1 paper

NM_021098.3

p.R538W

c.1612A>T

3 papers

NM_021098.3

p.H526Y

c.1576C>T

1 paper

NM_021098.3

p.H525R

c.1574A>G

1 paper

NM_021098.3

p.G540R

c.1618G>C

1 paper

NM_021098.3

p.H528ins0

c.1582_1584dupCAC

1 paper

NM_021098.3

p.H526_H528del0

c.1576_1584del9

1 paper

NM_021098.3

p.P541P

c.1623C>T

1 paper

NM_021098.3

p.E542K

c.1624G>A

1 paper

NM_021098.3

p.E542Q

c.1624G>C

1 paper

NM_021098.3

p.G544S

c.1630G>A