Varaico: Literature-Extracted Genetic Variants

Gene:ACVR1
Variant:p.K235R
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ACVR1

NM_001111067.4:p.K235R

Associated Papers

A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.

Katagiri T et al.

Nature Communications, 2023

37231012 (PubMed )
Supplement: 41467_2023_38746_MOESM1_ESM.pdf

Bone morphogenic protein signaling is a major determinant of dentate development.

Choe Y et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva.

Song GA et al.

The Journal of Biological Chemistry, 2010

The serine/threonine transmembrane receptor ALK2 mediates Müllerian inhibiting substance signaling.

Visser JA et al.

Molecular Endocrinology (baltimore, Md.), 2001

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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."