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

4 papers

NM_018896.5

p.L909F

c.2727G>C

Surrounding Variants

4 papers

NM_018896.5

p.L909F

c.2727G>T

2 papers

NM_018896.5

p.V914I

c.2740G>A

1 paper

NM_018896.5

p.R903G

c.2707C>G

1 paper

NM_018896.5

p.K890insFs

c.2670dupG

1 paper

NM_018896.5

p.L929F

c.2785C>T

1 paper

NM_018896.5

p.G951S

c.2851G>A

1 paper

NM_018896.5

p.G951A

c.2852G>C

1 paper

NM_018896.5

p.V954M

c.2860G>A

2 papers

NM_018896.5

p.F956del1

c.2866_2867delTTC

1 paper

NM_018896.5

p.M870V

c.2608A>G

21 papers

NM_018896.5

p.A961T

c.2881G>A

2 papers

NM_018896.5

p.I962N

c.2885T>A