Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.W380R
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ETV6

NM_001987.5:p.W380R

Associated Papers

Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.

Rajendra Kurup A et al.

Annals of Hematology, 2025

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Capaci V et al.

Cells, 2024

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

Faleschini M et al.

Haematologica, 2022

Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.

Kozubik KS et al.

Platelets, 2021

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

Bi L et al.

Oncology Letters, 2021

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › B__Driver_candidates

ETV6-related thrombocytopenia and leukemia predisposition.

Di Paola J et al.

Blood, 2019

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

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

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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."