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.G2242_D2243insFs

c.6726_6727dupGG

Surrounding Variants

1 paper

NM_021098.3

p.D2243fs

c.6727_6728fs

1 paper

NM_021098.3

p.A2254_E2259del6

c.6760_6776del18

1 paper

NM_021098.3

p.A2254T

c.6760G>A

1 paper

NM_021098.3

p.T2226R

c.6677C>G

2 papers

NM_021098.3

p.T2226M

c.6677C>T

1 paper

NM_021098.3

p.T2226S

c.6676A>T

1 paper

NM_021098.3

p.R2257Q

c.6770G>A

1 paper

NM_021098.3

p.E2224Q

c.6670G>C

1 paper

NM_021098.3

p.A2258A

c.6774T>C

1 paper

NM_021098.3

p.T2220I

c.6659C>T

3 papers

NM_021098.3

p.R2218H

c.6653G>A

1 paper

NM_021098.3

p.P2264L

c.6791C>T