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

1–12 of 798 variants

54 papers

NM_021098.3

p.M1549V

c.4645A>G

31 papers

NM_021098.3

p.R788C

c.2362C>T

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

25 papers

NM_021098.3

p.G773D

c.2318G>A

25 papers

NM_021098.3

p.P2083L

c.6248C>T

24 papers

NM_021098.3

p.S196L

c.587C>T

19 papers

NM_021098.3

p.C456S

c.1366T>A

19 papers

NM_021098.3

p.C456S

c.1367G>C

17 papers

NM_021098.3

p.V1951E

c.5852T>A

16 papers

NM_021098.3

p.V831M

c.2491G>A