Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.Y130N
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MAP2K1

NM_002755.4:p.Y130N

Associated Papers

Evolutionary history of MEK1 illuminates the nature of deleterious mutations.

Andrianova EP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37579140 (PubMed )
Supplement: pnas.2304184120.sapp.pdf

Swimming toward solutions: Using fish and frogs as models for understanding RASopathies.

Patterson VL et al.

Birth Defects Research, 2020

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

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

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

Rodriguez-Viciana P et al.

Methods in Enzymology, 2008

Neurological complications of cardio-facio-cutaneous syndrome.

Yoon G et al.

Developmental Medicine and Child Neurology, 2007

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