Varaico: Literature-Extracted Genetic Variants

Gene:INPP5D
Variant:p.F28L
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INPP5D

NM_001017915.3:p.F28L

Associated Papers

The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.

McGrath MJ et al.

Febs Letters, 2025

JAK2-V617F is a negative regulation factor of SHIP1 protein and thus influences the AKT signaling pathway in patients with Myeloproliferative neoplasm (MPN).

Glück M et al.

The International Journal of Biochemistry & Cell Biology, 2022

Analysis of the FLVR motif of SHIP1 and its importance for the protein stability of SH2 containing signaling proteins.

Ehm PAH et al.

Cellular Signalling, 2019

JAM-A regulates cortical dynein localization through Cdc42 to control planar spindle orientation during mitosis.

Tuncay H et al.

Nature Communications, 2015

Leukemia-associated mutations in SHIP1 inhibit its enzymatic activity, interaction with the GM-CSF receptor and Grb2, and its ability to inactivate PI3K/AKT signaling.

Brauer H et al.

Cellular Signalling, 2012

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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."