Varaico: Literature-Extracted Genetic Variants

Gene:ANTXR2
Variant:p.D50A
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ANTXR2

NM_058172.6:p.D50A

Associated Papers

Ligand Binding to the Collagen VI Receptor Triggers a Talin-to-RhoA Switch that Regulates Receptor Endocytosis.

Bürgi J et al.

Developmental Cell, 2020

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.

Bürgi J et al.

Nature Communications, 2017

Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.

Deuquet J et al.

Embo Molecular Medicine, 2011

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.

Deuquet J et al.

Human Mutation, 2009

Divalent metal ion coordination by residue T118 of anthrax toxin receptor 2 is not essential for protective antigen binding.

Scobie HM et al.

Plos One, 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."