DYNC2H1 Back

dynein, cytoplasmic 2, heavy chain 1

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NCBI Description of DYNC2H1

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins.

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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

DYNC2H1 is highly significantly mutated in
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DYNC2H1 is significantly mutated in
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DYNC2H1 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 DYNC2H1