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.T422A

c.1264A>G

Surrounding Variants

1 paper

NM_018896.5

p.S418A

c.1252T>G

1 paper

NM_018896.5

p.F416L

c.1248C>A

1 paper

NM_018896.5

p.F416L

c.1248C>G

1 paper

NM_018896.5

p.E428K

c.1282G>A

1 paper

NM_018896.5

p.F416L

c.1246T>C

1 paper

NM_018896.5

p.R413C

c.1237C>T

1 paper

NM_018896.5

p.S431N

c.1292G>A

1 paper

NM_018896.5

p.E411D

c.1233G>C

1 paper

NM_018896.5

p.E411D

c.1233G>T

1 paper

NM_018896.5

p.Q412delFs

c.1234delC

1 paper

NM_018896.5

p.Y442C

c.1325A>G

1 paper

NM_018896.5

p.R445C

c.1333C>T