Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B
Variant:p.F341L
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ADH1B

NM_000668.6:p.F341L

Associated Papers

An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.

Benson MR et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

39658204 (PubMed )
Supplement: revised_supplementary_appendix_clean_zjae199.docx

GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.

Howles SA et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.

Gorvin CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM et al.

Nature Reviews. Endocrinology, 2018

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.

Babinsky VN et al.

The Journal of Biological Chemistry, 2016

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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."