Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.L388R
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GNAS

NM_000516.7:p.L388R

Associated Papers

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases.

Ramakrishnan A et al.

Jcem Case Reports, 2024

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.

Mendes de Oliveira E et al.

The New England Journal of Medicine, 2021

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S1.xlsx › Sheet1

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network.

Thiele S et al.

European Journal of Endocrinology, 2016

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Lemos MC et al.

Human Mutation, 2015

25219572 (PubMed )
Supplement: humu0036-0011-sd1.pdf

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

Wu YL et al.

Plos One, 2014

GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.

Linglart A et al.

Hormone Research in Paediatrics, 2013

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

Thiele S et al.

Human Mutation, 2011

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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."