rs140122747

This variant is located in the PFKP gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PFKP

This gene encodes a member of the phosphofructokinase A protein family. The encoded enzyme is the platelet-specific isoform of phosphofructokinase and plays a key role in glycolysis regulation. This gene may play a role in metabolic reprogramming in some cancers, including clear cell renal cell carcinomas, and cancer of the bladder, breast, and lung. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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