Varaico: Literature-Extracted Genetic Variants

Gene:SOS1
Variant:p.P478L
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SOS1

NM_005633.4:p.P478L

Associated Papers

Characterization of the BH1406 non-small cell lung cancer (NSCLC) cell line carrying an activating SOS1 mutation.

Hamilton G et al.

Translational Lung Cancer Research, 2024

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

SOS GEFs in health and disease.

Baltanás FC et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2020

SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy.

Cowan JR et al.

Circulation. Genomic and Precision Medicine, 2020

Identification and Characterization of Oncogenic SOS1 Mutations in Lung Adenocarcinoma.

Cai D et al.

Molecular Cancer Research : Mcr, 2019

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

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Fahrner JA et al.

American Journal of Medical Genetics. Part A, 2012

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

Lepri F et al.

Human Mutation, 2011

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

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

Longoni M et al.

American Journal of Medical Genetics. Part A, 2010

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

Narumi Y et al.

Journal of Human Genetics, 2008

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker M et al.

Journal of Medical Genetics, 2007

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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."