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.K2071K

c.6213G>A

Surrounding Variants

1 paper

NM_021098.3

p.R2070H

c.6209G>A

10 papers

NM_021098.3

p.R2077H

c.6230G>A

1 paper

NM_021098.3

p.R2063W

c.6187C>T

1 paper

NM_021098.3

p.R2082W

c.6244C>T

1 paper

NM_021098.3

p.P2083S

c.6247C>T

4 papers

NM_021098.3

p.R2060H

c.6179G>A

25 papers

NM_021098.3

p.P2083L

c.6248C>T

1 paper

NM_021098.3

p.P2083P

c.6249G>A

1 paper

NM_021098.3

p.P2059_R2063ins1

c.6176_6187dup12

1 paper

NM_021098.3

p.Q2051insFs

c.6152_6153insG

1 paper

NM_021098.3

p.S2094W

c.6281C>G

1 paper

NM_021098.3

p.A2097A

c.6291C>T