Varaico: Literature-Extracted Genetic Variants

Gene:AGTR2
Variant:p.R248K
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AGTR2

NM_000686.5:p.R248K

Associated Papers

Structural effect of the H992D/H418D mutation of angiotensin-converting enzyme in the Indian population: implications for health and disease.

Kulshreshtha A et al.

Journal of Biomolecular Structure & Dynamics, 2025

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.

Bienvenu T et al.

Journal of Medical Genetics, 2003

AGTR2 mutations in X-linked mental retardation.

Vervoort VS et al.

Science (new York, N.y.), 2002

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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."