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PTEN F21A - Gene Variant Detail

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Gene PTEN
Variant F21A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN F21A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). F21A retains lipid phosphatase activity (PMID: 25875300, PMID: 17213812), but aberrantly localizes to the nucleus and fails to inhibit Akt phosphorylation and cell proliferation in culture (PMID: 17213812) and therefore, confers a loss of function on the Pten protein.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN F21A

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Transcript NM_000314.8
gDNA chr10:g.87864530_87864531delTTinsGC
cDNA c.61_62delTTinsGC
Protein p.F21A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87864530_87864531delTTinsGC c.61_62delTTinsGC p.F21A RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864530_87864531delTTinsGC c.61_62delTTinsGC p.F21A RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87864530_87864531delTTinsGC c.61_62delTTinsGC p.F21A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References