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.V805I

c.2413G>A

Surrounding Variants

1 paper

NM_021098.3

p.I803L

c.2407A>C

1 paper

NM_021098.3

p.T807M

c.2420C>T

2 papers

NM_021098.3

p.A802V

c.2405C>T

1 paper

NM_021098.3

p.M810delFs

c.2430delG

2 papers

NM_021098.3

p.I799V

c.2395A>G

1 paper

NM_021098.3

p.G811fs

c.2431_2432fs

1 paper

NM_021098.3

p.V790M

c.2368G>A

4 papers

NM_021098.3

p.R788H

c.2363G>A

1 paper

NM_021098.3

p.R788S

c.2362C>A

31 papers

NM_021098.3

p.R788C

c.2362C>T

1 paper

NM_021098.3

p.R787C

c.2359C>T

5 papers

NM_021098.3

p.K785M

c.2354A>T