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

1–12 of 516 variants

37 papers

NM_018896.5

p.R1715H

c.5144G>A

21 papers

NM_018896.5

p.A961T

c.2881G>A

20 papers

NM_018896.5

p.M1531V

c.4591A>G

10 papers

NM_018896.5

p.T321S

c.961A>T

5 papers

NM_018896.5

p.R456Q

c.1367G>A

5 papers

NM_018896.5

p.A570V

c.1709C>T

4 papers

NM_018896.5

p.L208P

c.623T>C

4 papers

NM_018896.5

p.F223del1

c.667_668delTTC

4 papers

NM_018896.5

p.L909F

c.2727G>C

4 papers

NM_018896.5

p.L909F

c.2727G>T

4 papers

NM_018896.5

p.A1099T

c.3295G>A

4 papers

NM_018896.5

p.R1243Q

c.3728G>A