Varaico: Literature-Extracted Genetic Variants

Gene:KRAS
Variant:p.Q22E
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KRAS

NM_004985.5:p.Q22E

Associated Papers

Functional Analysis of Rare RAS Variants of Unknown Significance.

Park S et al.

Cancer Research Communications, 2025

40970755 (PubMed )
Supplement: crc-25-0188_supplementary_table_s5_suppst5.xlsx › Supplementary_Table_S5

Genetic Ancestry and Lung Cancer in Latin American Patients: A Crucial Step for Understanding a Diverse Population.

Castañeda-González JP et al.

Clinical Lung Cancer, 2025

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

Single nucleotide variants in lung cancer.

Tian X et al.

Chinese Medical Journal Pulmonary and Critical Care Medicine, 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

Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention.

Johnson C et al.

Cancer Discovery, 2022

Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.

Tripathi S et al.

Computational and Structural Biotechnology Journal, 2022

34976316 (PubMed )
Supplement: mmc1.docx

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

Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.

Engler M et al.

Mechanisms of Ageing and Development, 2021

Consistent B Cell Receptor Immunoglobulin Features Between Siblings in Familial Chronic Lymphocytic Leukemia.

Kolijn PM et al.

Frontiers in Oncology, 2021

34513715 (PubMed )
Supplement: Table_5.xlsx › Blad1

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Hong TH et al.

Journal for Immunotherapy of Cancer, 2020

33077514 (PubMed )
Supplement: jitc-2020-001199supp002.pdf

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _B__Y2H-SI_disease_mut

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

Kiel C et al.

Molecular Systems Biology, 2014

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.

Nosan G et al.

Croatian Medical Journal, 2013

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.

Cirstea IC et al.

Human Molecular Genetics, 2013

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Gremer L et al.

Human Mutation, 2011

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

Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

Kratz CP et al.

Cell Cycle (georgetown, Tex.), 2006

Distal phalangeal creases--a distinctive dysmorphic feature in disorders of the RAS signalling pathway?

Ørstavik KH et al.

European Journal of Medical Genetics, 0

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