Varaico: Literature-Extracted Genetic Variants

Gene:RAF1
Variant:p.E478K
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RAF1

NM_002880.4:p.E478K

Associated Papers

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Gazzin A et al.

European Journal of Human Genetics : Ejhg, 2026

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Precision targeted-immunotherapy for BRAF V600E and MET-amplified biliary tract cancer: two case reports.

He X et al.

The Oncologist, 2025

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Carcavilla A et al.

Journal of Clinical Medicine, 2023

37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_

Pharmacological Induction of RAS-GTP Confers RAF Inhibitor Sensitivity in KRAS Mutant Tumors.

Yen I et al.

Cancer Cell, 2018

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Harms FL et al.

American Journal of Medical Genetics. Part A, 2018

CRAF R391W is a melanoma driver oncogene.

Atefi M et al.

Scientific Reports, 2016

Oncogenic BRAF Deletions That Function as Homodimers and Are Sensitive to Inhibition by RAF Dimer Inhibitor LY3009120.

Chen SH et al.

Cancer Discovery, 2016

Inhibition of RAF Isoforms and Active Dimers by LY3009120 Leads to Anti-tumor Activities in RAS or BRAF Mutant Cancers.

Peng SB et al.

Cancer Cell, 2015

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

Antitumor activity of the selective pan-RAF inhibitor TAK-632 in BRAF inhibitor-resistant melanoma.

Nakamura A et al.

Cancer Research, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

A landscape of driver mutations in melanoma.

Hodis E et al.

Cell, 2012

Distinct requirement for an intact dimer interface in wild-type, V600E and kinase-dead B-Raf signalling.

Röring M et al.

The Embo Journal, 2012

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

RAF protein-serine/threonine kinases: structure and regulation.

Roskoski R

Biochemical and Biophysical Research Communications, 2010

Targets of Raf in tumorigenesis.

Niault TS et al.

Carcinogenesis, 2010

RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth.

Hatzivassiliou G et al.

Nature, 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

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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."