Varaico: Literature-Extracted Genetic Variants

Gene:MAP2K2
Variant:p.S127L
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MAP2K2

NM_030662.4:p.S127L

Associated Papers

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MAP2K2

Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Thirunavukarasu D et al.

Genome Biology, 2021

34482832 (PubMed )
Supplement: 13059_2021_2449_MOESM2_ESM.xlsx › Melanoma

Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.

Stone TJ et al.

Acta Neuropathologica, 2018

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Lubbe SJ et al.

Neurobiology of Aging, 2016

27640074 (PubMed )
Supplement: mmc2.xlsx › Suppl._Table_5

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
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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."