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

2 papers

NM_018896.5

p.D1279N

c.3835G>A

Surrounding Variants

1 paper

NM_018896.5

p.V1281M

c.3841G>A

1 paper

NM_018896.5

p.I1273V

c.3817A>G

1 paper

NM_018896.5

p.I1285V

c.3853A>G

4 papers

NM_018896.5

p.I1273F

c.3817A>T

2 papers

NM_018896.5

p.R1264S

c.3792G>T

1 paper

NM_018896.5

p.R1297C

c.3889C>T

2 papers

NM_018896.5

p.R1297H

c.3890G>A

1 paper

NM_018896.5

p.R1264S

c.3792G>C

1 paper

NM_018896.5

p.R1264S

c.3792G>T

2 papers

NM_018896.5

p.S1263A

c.3787T>G

4 papers

NM_018896.5

p.R1243Q

c.3728G>A

1 paper

NM_018896.5

p.R1241*

c.3721C>T