Varaico: Literature-Extracted Genetic Variants

CACNA1G

356 papers

RefSeq Summary

Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or n...

Pfam Domains

Ion_transaa 80–406UCSCIon transport protein

Ion_transaa 742–975UCSCIon transport protein

Ion_transaa 1275–1548UCSCIon transport protein

Ion_transaa 1610–1862UCSCIon transport protein

Gene Aliases

HGNC Name

calcium voltage-gated channel subunit alpha1 G

HGNC Alias Symbols

Cav3.1; NBR13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018896.5

p.P617fs

c.1849_1850fs

Surrounding Variants

1 paper

NM_018896.5

p.P616P

c.1848C>G

1 paper

NM_018896.5

p.G615R

c.1843G>A

1 paper

NM_018896.5

p.G615R

c.1843G>C

1 paper

NM_018896.5

p.S614delFs

c.1842delT

1 paper

NM_018896.5

p.S621_L622delFs

c.1863_1866del4

1 paper

NM_018896.5

p.P625L

c.1874C>T

3 papers

NM_018896.5

p.G627R

c.1879G>A

3 papers

NM_018896.5

p.G627R

c.1879G>C

1 paper

NM_018896.5

p.K603Q

c.1807A>C

1 paper

NM_018896.5

p.P598delFs

c.1793_1794delCA

1 paper

NM_018896.5

p.S596G

c.1786A>G

1 paper

NM_018896.5

p.V593M

c.1777G>A