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.C282S

c.845G>C

Surrounding Variants

1 paper

NM_018896.5

p.S281S

c.843C>G

2 papers

NM_018896.5

p.R280W

c.838C>T

1 paper

NM_018896.5

p.G278S

c.832G>A

1 paper

NM_018896.5

p.T287M

c.860C>T

1 paper

NM_018896.5

p.R289C

c.865C>T

2 papers

NM_018896.5

p.R289H

c.866G>A

1 paper

NM_018896.5

p.R275C

c.823C>T

1 paper

NM_018896.5

p.S272Y

c.815C>A

1 paper

NM_018896.5

p.C271S

c.812G>C

1 paper

NM_018896.5

p.G293G

c.879C>T

1 paper

NM_018896.5

p.C271S

c.811T>A

1 paper

NM_018896.5

p.F269C

c.806T>G