Varaico: Literature-Extracted Genetic Variants

Gene:RAF1
Variant:p.L603P
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RAF1

NM_002880.4:p.L603P

Associated Papers

Structural Insights Into the Impact of the Glycine-Rich Loop Mutation in Noonan Syndrome on the ATP Binding Pocket of CRAF Kinase.

Janati-Fard F et al.

Proteins, 2025

Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Tritto V et al.

Human Genetics, 2024

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Wong S et al.

Embo Molecular Medicine, 2023

Molecular analyses of the C-terminal CRAF variants associated with cardiomyopathy reveal their opposing impacts on the active conformation of the kinase domain.

Nakhaei-Rad S et al.

Journal of Biomolecular Structure & Dynamics, 2023

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Gelb BD et al.

Progress in Pediatric Cardiology, 2015

RAF1 mutations in childhood-onset dilated cardiomyopathy.

Dhandapany PS et al.

Nature Genetics, 2014

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