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.P546T

c.1636C>A

Surrounding Variants

2 papers

NM_018896.5

p.A545T

c.1633G>A

2 papers

NM_018896.5

p.A545P

c.1633G>C

1 paper

NM_018896.5

p.A545insFs

c.1634dupC

2 papers

NM_018896.5

p.A545fs

c.1633_1634fs

1 paper

NM_018896.5

p.A545delFs

c.1634delC

1 paper

NM_018896.5

p.V553M

c.1657G>A

1 paper

NM_018896.5

p.R531Q

c.1592G>A

1 paper

NM_018896.5

p.R531R

c.1591C>A

1 paper

NM_018896.5

p.C561Y

c.1682G>A

1 paper

NM_018896.5

p.R530H

c.1589G>A

1 paper

NM_018896.5

p.D525_A526del2

c.1573_1577del6

1 paper

NM_018896.5

p.R524G

c.1570A>G