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.E2309fs

c.6925_6926fs

Surrounding Variants

2 papers

NM_021098.3

p.E2309delFs

c.6926_6927delAG

1 paper

NM_021098.3

p.P2310S

c.6928C>T

1 paper

NM_021098.3

p.E2307*

c.6919G>T

1 paper

NM_021098.3

p.M2312V

c.6934A>G

1 paper

NM_021098.3

p.P2305fs

c.6913_6914fs

1 paper

NM_021098.3

p.E2304E

c.6912A>G

1 paper

NM_021098.3

p.P2305delFs

c.6913delC

1 paper

NM_021098.3

p.P2313P

c.6939C>T

1 paper

NM_021098.3

p.V2314I

c.6940G>A

1 paper

NM_021098.3

p.P2318insFs

c.6953dupC

1 paper

NM_021098.3

p.P2302_L2303delFs

c.6906_6907delCC

1 paper

NM_021098.3

p.I2300V

c.6898A>G