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.D1215N

c.3643G>A

Surrounding Variants

1 paper

NM_018896.5

p.L1219V

c.3655C>G

1 paper

NM_018896.5

p.R1210Q

c.3629G>A

1 paper

NM_018896.5

p.R1207H

c.3620G>A

1 paper

NM_018896.5

p.G1201insFs

c.3603dupC

1 paper

NM_018896.5

p.N1200S

c.3599A>G

1 paper

NM_018896.5

p.R1190P

c.3569G>C

2 papers

NM_018896.5

p.R1190*

c.3568C>T

1 paper

NM_018896.5

p.R1166Q

c.3497G>A

1 paper

NM_018896.5

p.R1159S

c.3475C>A

1 paper

NM_018896.5

p.H1158Y

c.3472C>T

1 paper

NM_001256332.2

p.E1124D

c.3372A>C

1 paper

NM_001256332.2

p.E1124D

c.3372A>T