Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.R508Q
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CACNA1C

NM_000719.7:p.R508Q

Associated Papers

L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.

Tarnovskaya SI et al.

Membranes, 2021

34436362 (PubMed )
Supplement: membranes-11-00599-s001.zip › membranes-1307172-supplementary.xlsx › Table_S1

A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.

Sadeh TT et al.

Frontiers in Genetics, 2021

33584831 (PubMed )
Supplement: Data_Sheet_1.PDF

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom TM et al.

Nature Genetics, 1998

The Ca(v)1.4 calcium channel: more than meets the eye.

Doering CJ et al.

Channels (austin, Tex.), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."