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.M1531I

c.4593G>T

Surrounding Variants

1 paper

NM_018896.5

p.M1531I

c.4593G>A

1 paper

NM_018896.5

p.M1531I

c.4593G>C

1 paper

NM_018896.5

p.M1531T

c.4592T>C

1 paper

NM_018896.5

p.M1531L

c.4591A>C

20 papers

NM_018896.5

p.M1531V

c.4591A>G

1 paper

NM_018896.5

p.M1531L

c.4591A>T

3 papers

NM_018896.5

p.G1534D

c.4601G>A

1 paper

NM_018896.5

p.A1525P

c.4573G>C

1 paper

NM_018896.5

p.L1521L

c.4561C>T

1 paper

NM_018896.5

p.R1544Q

c.4631G>A

1 paper

NM_018896.5

p.I1518T

c.4553T>C

1 paper

NM_018896.5

p.F1517delFs

c.4551delC