rs41288721
This variant is located in the PFKP gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all PFKP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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