Varaico: Literature-Extracted Genetic Variants

Gene:REG1A
Variant:p.Y63C
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REG1A

NM_002909.5:p.Y63C

Associated Papers

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.

Solman M et al.

Frontiers in Cell and Developmental Biology, 2022

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

Brewer MK et al.

Iscience, 2021

Recent Advances of SHP2 Inhibitors in Cancer Therapy: Current Development and Clinical Application.

Yuan X et al.

Journal of Medicinal Chemistry, 2020

Targeting a Pathogenic Cysteine Mutation: Discovery of a Specific Inhibitor of Y279C SHP2.

Kim JY et al.

Biochemistry, 2020

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Jongmans MC et al.

European Journal of Human Genetics : Ejhg, 2011

Folding and misfolding in a naturally occurring circularly permuted PDZ domain.

Ivarsson Y et al.

The Journal of Biological Chemistry, 2008

Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

Sarkozy A et al.

Journal of Medical Genetics, 2003

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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."