GHRHR Back

growth hormone releasing hormone receptor

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NCBI Description of GHRHR
This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature.

Community Annotation of GHRHR Add / Edit GHRHR: 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

GHRHR is highly significantly mutated in
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GHRHR is significantly mutated in
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GHRHR 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 GHRHR