Varaico: Literature-Extracted Genetic Variants

Gene:FAM20C
Variant:p.D478A
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FAM20C

NM_020223.4:p.D478A

Associated Papers

Molecular Cloning of Mouse Homologue of Enamel Protein C4orf26 and Its Phosphorylation by FAM20C.

Govitvattana N et al.

Calcified Tissue International, 2021

Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Ben Djoudi Ouadda A et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

In vitro phosphorylation of von Willebrand factor by FAM20c enhances its ability to support platelet adhesion.

Da Q et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

A secretory pathway kinase regulates sarcoplasmic reticulum Ca2+ homeostasis and protects against heart failure.

Pollak AJ et al.

Elife, 2018

Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Cui J et al.

Elife, 2017

FAM20A binds to and regulates FAM20C localization.

Ohyama Y et al.

Scientific Reports, 2016

Posttranslational processing of FGF23 in osteocytes during the osteoblast to osteocyte transition.

Yamamoto H et al.

Bone, 2016

A Single Kinase Generates the Majority of the Secreted Phosphoproteome.

Tagliabracci VS et al.

Cell, 2015

Phosphorylation and Alternative Splicing of 7B2 Reduce Prohormone Convertase 2 Activation.

Ramos-Molina B et al.

Molecular Endocrinology (baltimore, Md.), 2015

A secretory kinase complex regulates extracellular protein phosphorylation.

Cui J et al.

Elife, 2015

FGF23 is endogenously phosphorylated in bone cells.

Lindberg I et al.

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

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

Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.

Tagliabracci VS et al.

Science (new York, N.y.), 2012

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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."