Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.M1T
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MC2R

NM_000529.2:p.M1T

Associated Papers

Characterization of a Preclinical In Vitro Model Derived from a SMARCA4-Mutated Sinonasal Teratocarcinosarcoma.

Lorenzo-Guerra SL et al.

Cells, 2023

38201285 (PubMed )
Supplement: cells-13-00081-s001.zip › cells-2770860-supplementary.pdf

Gαs-Protein Kinase A (PKA) Pathway Signalopathies: The Emerging Genetic Landscape and Therapeutic Potential of Human Diseases Driven by Aberrant Gαs-PKA Signaling.

Ramms DJ et al.

Pharmacological Reviews, 2021

Predicting attention-deficit/hyperactivity disorder severity from psychosocial stress and stress-response genes: a random forest regression approach.

van der Meer D et al.

Translational Psychiatry, 2017

28585928 (PubMed )
Supplement: tp2017114x1.docx

Association between two promoter polymorphisms (rs1893219 and rs1893220) of MC2R gene and intracerebral hemorrhage in Korean population.

Park HK et al.

Neuroscience Letters, 2015

Association of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.

Zhang Y et al.

European Review for Medical and Pharmacological Sciences, 2014

Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Switonski M et al.

Journal of Applied Genetics, 2013

The -2T/C polymorphism in the adrenocorticotropin receptor gene affects stress perception of patients with alopecia areata.

Guo HW et al.

International Journal of Dermatology, 2013

[Association between plasma lipid, glucose, cortisol and adrenocorticotropic hormone levels and GR and ACTHR gene polymorphisms].

Lian YL et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012

Search for genetic markers and functional variants involved in the development of opiate and cocaine addiction and treatment.

Yuferov V et al.

Annals of the New York Academy of Sciences, 2010

Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms.

Liu ZL et al.

Chinese Medical Journal, 2008

ACTH receptor promoter polymorphism associates with severity of premature adrenarche and modulates hypothalamo-pituitary-adrenal axis in children.

Lappalainen S et al.

Pediatric Research, 2008

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

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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."