Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L205fs
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ETV6

NM_001987.5:p.L205fs

Associated Papers

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sd02.xlsx › snv_indel

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

Nishii R et al.

Blood, 2021

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

Moriyama T et al.

The Lancet. Oncology, 2015

26522332 (PubMed )
Supplement: NIHMS737731-supplement-1.pdf

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."