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.G755S

c.2263G>A

Surrounding Variants

1 paper

NM_021098.3

p.G755C

c.2263G>T

12 papers

NM_021098.3

p.G755D

c.2264G>A

1 paper

NM_021098.3

p.P752T

c.2254C>A

1 paper

NM_021098.3

p.P752A

c.2254C>G

1 paper

NM_021098.3

p.P756_G757ins0

c.2266_2271dup6

1 paper

NM_021098.3

p.P752_G753del0

c.2254_2259del6

1 paper

NM_021098.3

p.T751S

c.2251A>T

1 paper

NM_021098.3

p.T749M

c.2246C>T

1 paper

NM_021098.3

p.R761Q

c.2282G>A

1 paper

NM_021098.3

p.A748A

c.2244G>T

11 papers

NM_021098.3

p.A748V

c.2243C>T

1 paper

NM_021098.3

p.R747C

c.2239C>T