Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.E203Q
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MAP2K1

NM_002755.4:p.E203Q

Associated Papers

Activating mutations drive human MEK1 kinase using a gear-shifting mechanism.

Patil K et al.

The Biochemical Journal, 2023

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

The Genetic Evolution of Melanoma from Precursor Lesions.

Shain AH et al.

The New England Journal of Medicine, 2015

26559571 (PubMed )
Supplement: nejmoa1502583_appendix_4.xlsx › Sheet1

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.

Nishi E et al.

American Journal of Medical Genetics. Part A, 2015

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

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Nikolaev SI et al.

Nature Genetics, 2011

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

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

Nyström AM et al.

Journal of Medical Genetics, 2008

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