Varaico: Literature-Extracted Genetic Variants

Gene:KRAS
Variant:p.P34Q
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KRAS

NM_004985.5:p.P34Q

Associated Papers

Comprehensive structure-function analysis reveals gain- and loss-of-function mechanisms impacting oncogenic KRAS activity.

Kwon JJ et al.

Biorxiv : the Preprint Server for Biology, 2024

39484452 (PubMed )
Supplement: media-2.zip › Extended_Data_Tables › Extended_Data_Table_1.xlsx › KRAS_GOF_DMS_Screen

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

Serbinski CR et al.

American Journal of Medical Genetics. Part A, 2024

Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.

Ratnasinghe BD et al.

Biorxiv : the Preprint Server for Biology, 2023

Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.

Ratnasinghe BD et al.

Computational and Structural Biotechnology Journal, 2023

Craniosynostosis is a feature of Costello syndrome.

Weaver KN et al.

American Journal of Medical Genetics. Part A, 2022

Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.

Tripathi S et al.

Bioinformatics (oxford, England), 2021

33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1

Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Dunnett-Kane V et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2020

K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.

Hernández-Porras I et al.

The Journal of Pathology, 2016

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

Addissie YA et al.

American Journal of Medical Genetics. Part A, 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

Characterization of a novel KRAS mutation identified in Noonan syndrome.

Razzaque MA et al.

American Journal of Medical Genetics. Part A, 2012

Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

Lo FS et al.

European Journal of Pediatrics, 2009

An unexpected new role of mutant Ras: perturbation of human embryonic development.

Kratz CP et al.

Journal of Molecular Medicine (berlin, Germany), 2007

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

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."