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.R484C

c.1450C>T

Surrounding Variants

1 paper

NM_018896.5

p.R487H

c.1460G>A

1 paper

NM_018896.5

p.R488H

c.1463G>A

1 paper

NM_018896.5

p.V491I

c.1471G>A

1 paper

NM_018896.5

p.P470T

c.1408C>A

1 paper

NM_018896.5

p.H501Y

c.1501C>T

1 paper

NM_018896.5

p.Y505H

c.1513T>C

2 papers

NM_018896.5

p.V462A

c.1385T>C

5 papers

NM_018896.5

p.R456Q

c.1367G>A

2 papers

NM_018896.5

p.R456L

c.1367G>T

2 papers

NM_018896.5

p.R456W

c.1366C>T

1 paper

NM_018896.5

p.A514insFs

c.1541dupC

1 paper

NM_018896.5

p.A514fs

c.1540_1541fs