AMPH Back

amphiphysin

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NCBI Description of AMPH
This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.

Community Annotation of AMPH Add / Edit AMPH: 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).


Legend

AMPH is highly significantly mutated in
(none)
AMPH is significantly mutated in
(none)
AMPH is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for AMPH