EFTUD2 Back

elongation factor Tu GTP binding domain containing 2

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NCBI Description of EFTUD2
This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of EFTUD2 Add / Edit EFTUD2: 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

EFTUD2 is highly significantly mutated in
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EFTUD2 is significantly mutated in
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EFTUD2 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 EFTUD2