Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R399H
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ETV6

NM_001987.5:p.R399H

Associated Papers

Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.

Stein CM et al.

Leukemia, 2026

41419602 (PubMed )
Supplement: 41375_2025_2823_MOESM2_ESM.xlsx › putative_variants

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S4B_-_Germline_Variants

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.

Geng H et al.

Blood Advances, 2025

39536287 (PubMed )
Supplement: BLOODA_ADV-2024-014460-mmc1.pdf

Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.

Jakobsen NA et al.

Cell Stem Cell, 2024

38917807 (PubMed )
Supplement: mmc3.xlsx › Table_S2b

RNA-seq-based miRNA signature as an independent predictor of relapse in pediatric B-cell acute lymphoblastic leukemia.

Kubota H et al.

Blood Advances, 2024

38127276 (PubMed )
Supplement: BLOODA_ADV-2023-011583-mmc1.xlsx › Sup.9

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.

Gurney M et al.

British Journal of Haematology, 2023

Proposal of a new genomic framework for categorization of pediatric acute myeloid leukemia associated with prognosis.

Umeda M et al.

Research Square, 2023

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.

Faleschini M et al.

Haematologica, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Vantyghem S et al.

Haematologica, 2021

Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.

Nishii R et al.

Blood, 2021

Recurrent SETD2 mutation in NPM1-mutated acute myeloid leukemia.

Sun J et al.

Biomarker Research, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s004.pdf

Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.

Xu Y et al.

Oncotarget, 2017

29137279 (PubMed )
Supplement: oncotarget-08-82475-s003.xls › Sheet1

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY et al.

Nature Genetics, 2015

Functional consequences of somatic mutations in cancer using protein pocket-based prioritization approach.

Vuong H et al.

Genome Medicine, 2014

25360158 (PubMed )
Supplement: 13073_2014_81_MOESM1_ESM.xlsx › Table_S1

Identification of an ETV6-ABL2 fusion transcript in combination with an ETV6 point mutation in a T-cell acute lymphoblastic leukaemia cell line.

Griesinger F et al.

British Journal of Haematology, 2002

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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."