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

5 papers

NM_018896.5

p.R456Q

c.1367G>A

Surrounding Variants

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.Q453R

c.1358A>G

2 papers

NM_018896.5

p.V462A

c.1385T>C

2 papers

NM_018896.5

p.A448V

c.1343C>T

1 paper

NM_018896.5

p.A447V

c.1340C>T

1 paper

NM_018896.5

p.R445C

c.1333C>T

1 paper

NM_018896.5

p.P470T

c.1408C>A

1 paper

NM_018896.5

p.Y442C

c.1325A>G

1 paper

NM_018896.5

p.S431N

c.1292G>A

1 paper

NM_018896.5

p.R484C

c.1450C>T

1 paper

NM_018896.5

p.E428K

c.1282G>A