Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S30P
Back to variants list

MC4R

NM_005912.3:p.S30P

Associated Papers

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

Namjou B et al.

International Journal of Obesity (2005), 2021

32952152 (PubMed )
Supplement: 41366_2020_675_MOESM1_ESM.xlsx › Table_S2

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations.

Lubrano-Berthelier C et al.

Human Molecular Genetics, 2003

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."