Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.R408W
Back to variants list

FAM20C

NM_020223.4:p.R408W

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

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

Palma-Lara I et al.

International Journal of Molecular Sciences, 2021

Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.

Eras N et al.

Molecular Syndromology, 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

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

Eltan M et al.

Calcified Tissue International, 2020

Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.

Mamedova E et al.

Calcified Tissue International, 2019

Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF.

Wheeler JA et al.

Current Molecular Biology Reports, 2019

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

Sheth J et al.

Bmc Medical Genetics, 2018

Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.

Clinkenbeard EL et al.

Bone, 2017

The secretory pathway kinases.

Sreelatha A et al.

Biochimica Et Biophysica Acta, 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

The ABCs of the atypical Fam20 secretory pathway kinases.

Worby CA et al.

The Journal of Biological Chemistry, 0

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."