G6PC3 Back

glucose 6 phosphatase, catalytic, 3

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NCBI Description of G6PC3
This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Multiple transcript variants have been found for this gene, only one of which is expected to express a protein.

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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

G6PC3 is highly significantly mutated in
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G6PC3 is significantly mutated in
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G6PC3 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 G6PC3