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.V1743A

c.5228T>C

Surrounding Variants

1 paper

NM_018896.5

p.G1744V

c.5231G>T

1 paper

NM_018896.5

p.L1749V

c.5245C>G

1 paper

NM_018896.5

p.R1730Q

c.5189G>A

1 paper

NM_018896.5

p.V1727A

c.5180T>C

1 paper

NM_018896.5

p.L1720P

c.5159T>C

1 paper

NM_018896.5

p.H1774Q

c.5322C>A

1 paper

NM_018896.5

p.H1774Q

c.5322C>G

1 paper

NM_018896.5

p.R1786W

c.5356C>T

1 paper

NM_018896.5

p.L1793_T1794del2

c.5377_5381del6

1 paper

NM_018896.5

p.R1797*

c.5389C>T

1 paper

NM_018896.5

p.V1798F

c.5392G>T

1 paper

NM_018896.5

p.S1799T

c.5395T>A