Varaico: Literature-Extracted Genetic Variants

Gene:PTPN11
Variant:p.R4Q
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PTPN11

NM_002834.5:p.R4Q

Associated Papers

Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.

Jiang Z et al.

Biorxiv : the Preprint Server for Biology, 2024

39091798 (PubMed )
Supplement: media-3.xlsx › SHP2-FL_cSrc-KD_column

Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.

Martinelli S et al.

Human Mutation, 2020

Two distinct sets of NS2A molecules are responsible for dengue virus RNA synthesis and virion assembly.

Xie X et al.

Journal of Virology, 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."