Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.A93D
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ETV6

NM_001987.5:p.A93D

Associated Papers

Autophosphorylation of oncoprotein TEL-ABL in myeloid and lymphoid cells confers resistance to the allosteric ABL inhibitor asciminib.

Muratcioglu S et al.

Science Signaling, 2025

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

McConville M et al.

Science Advances, 2025

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

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

Nishii R et al.

Blood, 2021

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY et al.

Nature Genetics, 2015

Mutation of the salt bridge-forming residues in the ETV6-SAM domain interface blocks ETV6-NTRK3-induced cellular transformation.

Cetinbas N et al.

The Journal of Biological Chemistry, 2013

Biophysical characterization of the ETV6 PNT domain polymerization interfaces.

Gerak CAN et al.

The Journal of Biological Chemistry, 0

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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."