Gene Variant Detail

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Gene PTEN
Variant R130Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN R130Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130Q demonstrates Pten protein stability similar to wild-type protein, however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), loss of phosphatase activity (PMID: 10866302), and increased transformation ability in two different cell lines in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R130Q

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Transcript NM_000314.8
gDNA chr10:g.87933148G>A
cDNA c.389G>A
Protein p.R130Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933148G>A c.389G>A p.R130Q RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933148G>A c.389G>A p.R130Q RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933148G>A c.389G>A p.R130Q RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Infigratinib + Pictilisib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Pictilisib (GDC-0941) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Buparlisib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Buparlisib (BKM120) resulted in a synergistic effect, demonstrating inhibition of cell proliferation, decreased colony formation, and cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs endometrial cancer sensitive Alpelisib + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, the combination of Truseltiq (infigratinib) and Alpelisib (BYL719) resulted in a synergistic effect, demonstrating inhibition of cell proliferation and induced cell death in an endometrial cancer cell line harboring FGFR2 N550K, PIK3CA I20M and P539R, and PTEN R130Q and T321fs*23 in culture (PMID: 28119489). 28119489