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

54 papers

NM_021098.3

p.M1549V

c.4645A>G

Surrounding Variants

1 paper

NM_021098.3

p.N1548S

c.4643A>G

26 papers

NM_021098.3

p.M1549I

c.4647G>A

26 papers

NM_021098.3

p.M1549I

c.4647G>C

26 papers

NM_021098.3

p.M1549I

c.4647G>T

1 paper

NM_021098.3

p.V1553I

c.4657G>A

1 paper

NM_021098.3

p.K1560R

c.4679A>G

1 paper

NM_021098.3

p.I1536M

c.4608C>G

1 paper

NM_021098.3

p.M1531T

c.4592T>C

1 paper

NM_021098.3

p.M1531V

c.4591A>G

2 papers

NM_021098.3

p.A1567V

c.4700C>T

1 paper

NM_021098.3

p.W1530S

c.4589G>C

1 paper

NM_021098.3

p.E1569A

c.4706A>C