Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.V45I
Back to variants list

MC2R

NM_000529.2:p.V45I

Associated Papers

Genomic characterization of small cell carcinomas of the uterine cervix.

Schultheis AM et al.

Molecular Oncology, 2022

33830625 (PubMed )
Supplement: MOL2-16-833-s001.pdf

Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Campbell KM et al.

Cell Reports, 2018

30134176 (PubMed )
Supplement: NIHMS1520774-supplement-Table_S2.xlsx › Patient_2

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Jallades L et al.

Haematologica, 2017

28751561 (PubMed )
Supplement: 2016.160192.JALLADES_SUPPL.pdf

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Chan LF et al.

Hormone Research, 2008

Adrenocorticotropin resistance syndromes.

Cooray SN et al.

Endocrine Development, 2008

Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.

Mazur A et al.

Hormone Research, 2008

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

Tao YX

Pharmacology & Therapeutics, 2006

A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.

Selva KA et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.

Flück CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.

Penhoat A et al.

Journal of Molecular Medicine (berlin, Germany), 2002

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.

Naville D et al.

The Journal of Clinical Endocrinology and Metabolism, 1996

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."