Varaico: Literature-Extracted Genetic Variants

Gene:NTRK2
Variant:p.Y722C
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NTRK2

NM_006180.6:p.Y722C

Associated Papers

Functional characterization and potential therapeutic avenues for variants in the NTRK2 gene causing developmental and epileptic encephalopathies.

Long A et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2022

The central melanocortin system and human obesity.

Yang Y et al.

Journal of Molecular Cell Biology, 2020

Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.

Gudernova I et al.

Oncotarget, 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF et al.

American Journal of Human Genetics, 2017

Genetics of non-syndromic childhood obesity and the use of high-throughput DNA sequencing technologies.

da Fonseca ACP et al.

Journal of Diabetes and Its Complications, 2017

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA et al.

Journal of Medical Genetics, 2017

Rare variants in the neurotrophin signaling pathway implicated in schizophrenia risk.

Kranz TM et al.

Schizophrenia Research, 2015

The genetics of human obesity.

Xia Q et al.

Annals of the New York Academy of Sciences, 2013

Genetic factors for human obesity.

Ichihara S et al.

Cellular and Molecular Life Sciences : Cmls, 2008

Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity.

Gray J et al.

International Journal of Obesity (2005), 2007

A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

Yeo GS et al.

Nature Neuroscience, 2004

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