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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 |
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_000314.6 | chr10:g.87864530_87864531delTTinsGC | c.61_62delTTinsGC | p.F21A | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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