Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.R149H
Back to variants list

GNA11

NM_002067.5:p.R149H

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

A novel homozygous c.301T > C, p.Y101H variant in the GNA11 gene is implicated in familial hypocalciuric hypercalcemia type 2 in a proband with the heterozygous variant present in mother and father - A case report.

Koca SB et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2025

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

The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.

Kwon EJ et al.

Annals of Clinical and Laboratory Science, 2022

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

Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Gotoh O et al.

Nature Communications, 2019

31672974 (PubMed )
Supplement: 41467_2019_12985_MOESM8_ESM.xlsx › Suppl_Data_5
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."