Varaico: Literature-Extracted Genetic Variants

Gene:RAF1
Variant:p.Q335H
Back to variants list

RAF1

NM_002880.4:p.Q335H

Associated Papers

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.

Tartaglia M et al.

Annals of the New York Academy of Sciences, 2010

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

Kobayashi T et al.

Human Mutation, 2010

Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

Razzaque MA et al.

Nature Genetics, 2007

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

Pandit B et al.

Nature Genetics, 2007

Raf kinases: oncogenesis and drug discovery.

Schreck R et al.

International Journal of Cancer, 2006

Mutations of C-RAF are rare in human cancer because C-RAF has a low basal kinase activity compared with B-RAF.

Emuss V et al.

Cancer Research, 2005

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."