Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R399C
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ETV6

NM_001987.5:p.R399C

Associated Papers

Importins recognize the winged-helix fold of ETS transcription factors to mediate nuclear import.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2026

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Lyn

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

A germline ETV6 mutation disrupts hematopoiesis via de novo creation of a nuclear export signal.

McConville M et al.

Science Advances, 2025

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Lyn

The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.

Liu Y et al.

Therapeutic Advances in Hematology, 2025

Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.

Sato D et al.

Pediatric Hematology and Oncology, 2024

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Enigmatic missense mutations can cause disease via creation of de novo nuclear export signals.

McConville BM et al.

Biorxiv : the Preprint Server for Biology, 2024

Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia.

Leongamornlert D et al.

Blood Advances, 2023

The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.

Gurney M et al.

British Journal of Haematology, 2023

ETV6 Deficiency Unlocks ERG-Dependent Microsatellite Enhancers to Drive Aberrant Gene Activation in B-Lymphoblastic Leukemia.

Kodgule R et al.

Blood Cancer Discovery, 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

Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia.

Simeoni F et al.

Cell Reports, 2021

34551306 (PubMed )
Supplement: mmc1.pdf

New progress in the study of germline susceptibility genes of myeloid neoplasms.

Bi L et al.

Oncology Letters, 2021

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

Nishii R et al.

Blood, 2021

Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.

Kim B et al.

Scientific Reports, 2020

32868804 (PubMed )
Supplement: 41598_2020_71386_MOESM1_ESM.pdf

TP53, ETV6 and RUNX1 germline variants in a case series of patients developing secondary neoplasms after treatment for childhood acute lymphoblastic leukemia.

Junk SV et al.

Haematologica, 2019

ETV6-related thrombocytopenia and leukemia predisposition.

Di Paola J et al.

Blood, 2019

Prognostic significance of mutated genes in megakaryocytic disorders.

Asnafi AA et al.

Oncology Reviews, 2019

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

Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.

Duployez N et al.

European Journal of Haematology, 2018

Germline ETV6 mutations and predisposition to hematological malignancies.

Feurstein S et al.

International Journal of Hematology, 2017

Familial predisposition of myeloid malignancies: biological and clinical significance of recurrent germ line mutations.

Matsui H

International Journal of Hematology, 2017

ETV6 in hematopoiesis and leukemia predisposition.

Hock H et al.

Seminars in Hematology, 2017

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Poggi M et al.

Haematologica, 2017

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.

Melazzini F et al.

Haematologica, 2016

Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.

Moriyama T et al.

The Lancet. Oncology, 2015

ETV6 mutations define a new cancer predisposition syndrome.

Kirkpatrick G et al.

Oncotarget, 2015

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.

Topka S et al.

Plos Genetics, 2015

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY et al.

Nature Genetics, 2015

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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."