Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K1
Variant:p.E44G
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MAP2K1

NM_002755.4:p.E44G

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

Qualitative differences in disease-associated MEK mutants reveal molecular signatures and aberrant signaling-crosstalk in cancer.

Kubota Y et al.

Nature Communications, 2022

Leveraging Systematic Functional Analysis to Benchmark an In Silico Framework Distinguishes Driver from Passenger MEK Mutants in Cancer.

Hanrahan AJ et al.

Cancer Research, 2020

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

Patterson VL et al.

Birth Defects Research, 2020

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Lu H et al.

Bmc Cancer, 2018

29506494 (PubMed )
Supplement: 12885_2018_4159_MOESM2_ESM.xlsx › Sheet1

Divergent effects of intrinsically active MEK variants on developmental Ras signaling.

Goyal Y et al.

Nature Genetics, 2017

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

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C et al.

Journal of Medical Genetics, 2007

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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."