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.R1579Q

c.4736G>A

Surrounding Variants

3 papers

NM_021098.3

p.L1581V

c.4741C>G

1 paper

NM_021098.3

p.L1581P

c.4742T>C

1 paper

NM_021098.3

p.K1576R

c.4727A>G

1 paper

NM_021098.3

p.K1576_R1584del9

c.4726_4751del27

1 paper

NM_021098.3

p.R1585C

c.4753C>T

1 paper

NM_021098.3

p.R1573P

c.4718G>C

1 paper

NM_021098.3

p.R1573*

c.4717C>T

1 paper

NM_021098.3

p.R1586G

c.4756A>G

1 paper

NM_021098.3

p.R1572W

c.4714C>T

1 paper

NM_021098.3

p.A1570V

c.4709C>T

1 paper

NM_021098.3

p.E1569A

c.4706A>C

2 papers

NM_021098.3

p.A1567V

c.4700C>T