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

19 papers

NM_021098.3

p.C456S

c.1367G>C

Surrounding Variants

19 papers

NM_021098.3

p.C456S

c.1366T>A

1 paper

NM_021098.3

p.Y457S

c.1370A>C

1 paper

NM_021098.3

p.P453H

c.1358C>A

1 paper

NM_021098.3

p.P453S

c.1357C>T

1 paper

NM_021098.3

p.G465G

c.1395C>T

1 paper

NM_021098.3

p.H466N

c.1396C>A

1 paper

NM_021098.3

p.T446M

c.1337C>T

1 paper

NM_021098.3

p.H440Y

c.1318C>T

2 papers

NM_021098.3

p.R439C

c.1315C>T

1 paper

NM_021098.3

p.Q436*

c.1306C>T

1 paper

NM_021098.3

p.R477C

c.1429C>T

2 papers

NM_021098.3

p.R477H

c.1430G>A