Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.T268M
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FAM20C

NM_020223.4:p.T268M

Associated Papers

FAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.

Baker A et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2025

Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.

Palma-Lara I et al.

International Journal of Molecular Sciences, 2023

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.

Palma-Lara I et al.

International Journal of Molecular Sciences, 2021

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.

Bajaj S et al.

Bmc Pediatrics, 2021

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-2_Final_021921.xlsx › Table_S3.2

A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.

Eltan M et al.

Calcified Tissue International, 2020

A case of Raine syndrome presenting with facial dysmorphy and review of literature.

Sheth J et al.

Bmc Medical Genetics, 2018

The secretory pathway kinases.

Sreelatha A et al.

Biochimica Et Biophysica Acta, 2015

A new role for sphingosine: Up-regulation of Fam20C, the genuine casein kinase that phosphorylates secreted proteins.

Cozza G et al.

Biochimica Et Biophysica Acta, 2015

A secretory kinase complex regulates extracellular protein phosphorylation.

Cui J et al.

Elife, 2015

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Takeyari S et al.

Bone, 2014

Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

Kinoshita Y et al.

Bone, 2014

Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.

White KE et al.

Current Osteoporosis Reports, 2014

Raine syndrome: an overview.

Faundes V et al.

European Journal of Medical Genetics, 2014

Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis.

Tagliabracci VS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

Rafaelsen SH et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2013

The ABCs of the atypical Fam20 secretory pathway kinases.

Worby CA et al.

The Journal of Biological Chemistry, 0

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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."