Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K2
Variant:p.G132V
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MAP2K2

NM_030662.4:p.G132V

Associated Papers

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Kiel C et al.

Molecular Systems Biology, 2014

24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies

Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.

Linden HC et al.

Clinical Dysmorphology, 2011

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T et al.

Journal of Cellular and Molecular Medicine, 2010

Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

Anastasaki C et al.

Human Molecular Genetics, 2009

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

Dentici ML et al.

European Journal of Human Genetics : Ejhg, 2009

Crystal structures of MEK1 binary and ternary complexes with nucleotides and inhibitors.

Fischmann TO et al.

Biochemistry, 2009

Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

Rodriguez-Viciana P et al.

Methods in Enzymology, 2008

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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."