Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.P646L
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MEFV

NM_000243.3:p.P646L

Associated Papers

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters

Exome sequencing reveals heterogeneous clonal dynamics in donor cell myeloid neoplasms after stem cell transplantation.

Suárez-González J et al.

Haematologica, 2020

33131255 (PubMed )
Supplement: 2019_Sup_234609.pdf

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Increased prevalence of M694V in patients with ankylosing spondylitis: additional evidence for a link with familial mediterranean fever.

Akkoc N et al.

Arthritis and Rheumatism, 2010

The crystal structure of human pyrin b30.2 domain: implications for mutations associated with familial Mediterranean fever.

Weinert C et al.

Journal of Molecular Biology, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.

Cañete JD et al.

Arthritis and Rheumatism, 2007

Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).

Goulielmos GN et al.

Biochemical and Biophysical Research Communications, 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."