Varaico: Literature-Extracted Genetic Variants

Gene:TYROBP
Variant:p.D50A
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TYROBP

NM_003332.4:p.D50A

Associated Papers

DAP12 interacts with RER1 and is retained in the secretory pathway before assembly with TREM2.

Liu Y et al.

Cellular and Molecular Life Sciences : Cmls, 2024

γ-Secretase cleavage of the Alzheimer risk factor TREM2 is determined by its intrinsic structural dynamics.

Steiner A et al.

The Embo Journal, 2020

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis.

Kleinberger G et al.

Science Translational Medicine, 2014

24990881 (PubMed )
Supplement: 6-243ra86_sm.pdf
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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."