NF1 Back

neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)

External References: Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of NF1

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene.

Community Annotation of NF1 Add / Edit NF1: Annotations

No community annotations yet for NF1.

Sort mutations by: Tumor type Mutation type Position

Straightedge cursor Expand

Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).