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_001256332.2

p.E1124D

c.3372A>C

Surrounding Variants

1 paper

NM_001256332.2

p.E1124D

c.3372A>T

1 paper

NM_018896.5

p.H1158Y

c.3472C>T

1 paper

NM_018896.5

p.R1159S

c.3475C>A

1 paper

NM_018896.5

p.G1136A

c.3407G>C

1 paper

NM_018896.5

p.E1135G

c.3404A>G

1 paper

NM_018896.5

p.E1135K

c.3403G>A

1 paper

NM_018896.5

p.S1130fs

c.3388_3389fs

2 papers

NM_001256332.2

p.R1106Q

c.3317G>A

NM_018896.5

p.R1129Q

c.3386G>A

1 paper

NM_018896.5

p.R1166Q

c.3497G>A

1 paper

NM_018896.5

p.R1128Q

c.3383G>A

1 paper

NM_018896.5

p.R1106K

c.3317G>A

2 papers

NM_018896.5

p.R1190*

c.3568C>T