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.E2100del1

c.6298_6299delGAG

Surrounding Variants

1 paper

NM_021098.3

p.A2097A

c.6291C>T

1 paper

NM_021098.3

p.S2094W

c.6281C>G

1 paper

NM_021098.3

p.H2103H

c.6309C>T

2 papers

NM_021098.3

p.A2108T

c.6322G>A

1 paper

NM_021098.3

p.P2110S

c.6328C>T

1 paper

NM_021098.3

p.P2110R

c.6329C>G

1 paper

NM_021098.3

p.P2083P

c.6249G>A

25 papers

NM_021098.3

p.P2083L

c.6248C>T

1 paper

NM_021098.3

p.P2083S

c.6247C>T

1 paper

NM_021098.3

p.R2082W

c.6244C>T

1 paper

NM_021098.3

p.E2116K

c.6346G>A

1 paper

NM_021098.3

p.E2116*

c.6346G>T