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.F222S

c.665T>C

Surrounding Variants

4 papers

NM_018896.5

p.F223del1

c.667_668delTTC

2 papers

NM_018896.5

p.V221_F222del0

c.661_666del6

1 paper

NM_018896.5

p.V228A

c.683T>C

1 paper

NM_018896.5

p.N213I

c.638A>T

1 paper

NM_018896.5

p.L211P

c.632T>C

1 paper

NM_018896.5

p.L211R

c.632T>G

1 paper

NM_018896.5

p.P209S

c.625C>T

4 papers

NM_018896.5

p.L208P

c.623T>C

1 paper

NM_018896.5

p.T207T

c.621G>T

1 paper

NM_018896.5

p.R238W

c.712C>T

1 paper

NM_018896.5

p.R240*

c.718C>T

1 paper

NM_018896.5

p.R240Q

c.719G>A