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.R506Q

c.1517G>A

Surrounding Variants

2 papers

NM_021098.3

p.R505H

c.1514G>A

2 papers

NM_021098.3

p.R505C

c.1513C>T

1 paper

NM_021098.3

p.G501E

c.1502G>A

1 paper

NM_021098.3

p.S513W

c.1538C>G

3 papers

NM_021098.3

p.S513L

c.1538C>T

13 papers

NM_021098.3

p.G499S

c.1495G>A

1 paper

NM_021098.3

p.V514L

c.1540G>C

5 papers

NM_021098.3

p.H515Y

c.1543C>T

1 paper

NM_021098.3

p.G497S

c.1489G>A

5 papers

NM_021098.3

p.P492S

c.1474C>T

1 paper

NM_021098.3

p.H528ins0

c.1582_1584dupCAC

1 paper

NM_021098.3

p.H526_H528del0

c.1576_1584del9