Variant: rs727504317 

    present in Gene: MAP2K1
    present in Chromosome: 15
    Position on Chromosome: 66435145
    Alleles of this Variant: G/A

rs727504317 in MAP2K1 gene and Autism Spectrum Disorders PMID 30763456 2019 Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.

rs727504317 in MAP2K1 gene and CARDIOFACIOCUTANEOUS SYNDROME 3 PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

rs727504317 in MAP2K1 gene and Cardio-facio-cutaneous syndrome PMID 22327936 2012 Oncogenic MAP2K1 mutations in human epithelial tumors.

PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 19411838 2009 MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

rs727504317 in MAP2K1 gene and Non-Small Cell Lung Carcinoma PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 18632602 2008 Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma.

rs727504317 in MAP2K1 gene and Noonan Syndrome PMID 22327936 2012 Oncogenic MAP2K1 mutations in human epithelial tumors.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 19411838 2009 MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas.

rs727504317 in MAP2K1 gene and melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.