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

4 papers

NM_021098.3

p.P686L

c.2057C>T

Surrounding Variants

1 paper

NM_021098.3

p.P684H

c.2051C>A

1 paper

NM_021098.3

p.P684R

c.2051C>G

1 paper

NM_021098.3

p.P684S

c.2050C>T

2 papers

NM_021098.3

p.A690V

c.2069C>T

2 papers

NM_021098.3

p.V681L

c.2041G>C

2 papers

NM_021098.3

p.V681L

c.2041G>T

1 paper

NM_021098.3

p.L693delFs

c.2078delT

1 paper

NM_021098.3

p.L679P

c.2036T>C

3 papers

NM_021098.3

p.S677L

c.2030C>T

1 paper

NM_021098.3

p.G674G

c.2022C>T

1 paper

NM_021098.3

p.G674D

c.2021G>A

1 paper

NM_021098.3

p.G674R

c.2020G>C