Varaico: Literature-Extracted Genetic Variants

Gene:GNAI2
Variant:p.R179C
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GNAI2

NM_002070.4:p.R179C

Associated Papers

MAGIS syndrome: phenotypes, pathogenesis, and treatment.

Lamborn IT et al.

Journal of Human Immunity, 2025

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

Mutated G proteins as drug targets.

Noorman van der Dussen K et al.

Trends in Pharmacological Sciences, 2025

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › All

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S3

Germline mutations in a G protein identify signaling cross-talk in T cells.

Ham H et al.

Science (new York, N.y.), 2024

Active Gαi/o mutants accelerate breast tumor metastasis via the c-Src pathway.

Lyu C et al.

Biorxiv : the Preprint Server for Biology, 2023

Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.

Li SS et al.

Experimental Hematology & Oncology, 2022

36243813 (PubMed )
Supplement: 40164_2022_325_MOESM2_ESM.xlsx › Sheet1

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.

Lecoquierre F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma.

Nairismägi ML et al.

Leukemia, 2016

GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism.

Huang X et al.

Medical Hypotheses, 2009

Promoter methylation study of the H37/RBM5 tumor suppressor gene from the 3p21.3 human lung cancer tumor suppressor locus.

Oh JJ et al.

Human Genetics, 2008

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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."