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.R2155Q

c.6464G>A

Surrounding Variants

2 papers

NM_021098.3

p.W2154R

c.6460T>A

2 papers

NM_021098.3

p.W2154R

c.6460T>C

1 paper

NM_021098.3

p.Q2153H

c.6459G>C

1 paper

NM_021098.3

p.Q2153H

c.6459G>T

1 paper

NM_021098.3

p.R2149L

c.6446G>T

1 paper

NM_021098.3

p.G2163R

c.6487G>A

1 paper

NM_021098.3

p.G2163R

c.6487G>C

1 paper

NM_021098.3

p.G2163W

c.6487G>T

1 paper

NM_021098.3

p.A2168A

c.6504G>A

1 paper

NM_021098.3

p.D2139D

c.6417T>C

1 paper

NM_021098.3

p.D2139_A2140delins

c.6417_6418delinsCA

3 papers

NM_021098.3

p.P2173S

c.6517C>T