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.G827R

c.2479G>C

Surrounding Variants

1 paper

NM_018896.5

p.G827R

c.2479G>A

1 paper

NM_018896.5

p.G828delFs

c.2483delG

1 paper

NM_018896.5

p.G829S

c.2485G>A

1 paper

NM_018896.5

p.G829D

c.2486G>A

1 paper

NM_018896.5

p.I822M

c.2466C>G

1 paper

NM_018896.5

p.S831L

c.2492C>T

1 paper

NM_018896.5

p.S818R

c.2454C>A

1 paper

NM_018896.5

p.R837C

c.2509C>T

1 paper

NM_018896.5

p.R840H

c.2519G>A

1 paper

NM_018896.5

p.R853Q

c.2558G>A

1 paper

NM_018896.5

p.L858_T861delFs

c.2573_2582del10

1 paper

NM_018896.5

p.L858fs

c.2572_2573fs