Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R378P
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ETV6

NM_001987.5:p.R378P

Associated Papers

Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.

Rajendra Kurup A et al.

Annals of Hematology, 2025

Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?

Ammeti D et al.

Genes, 2025

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1B_Cases_composite_mutations

The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.

Gurney M et al.

British Journal of Haematology, 2023

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

Nishii R et al.

Blood, 2021

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
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