NF1 Back

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

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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

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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).


NF1 is highly significantly mutated in
Glioblastoma multiforme
32 patients (10%)
Lung adenocarcinoma
42 patients (10%)
combined cohort
206 patients (4%)
NF1 is significantly mutated in
13 patients (4%)
NF1 is near significance in
Lung squamous cell carcinoma
20 patients (11%)

Click on a tumor type to see its full list of significant genes.

Data details

Mutation list for NF1