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Gene PTEN
Variant K6fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN K6fs results in a change in the amino acid sequence of the Pten protein beginning at aa 6 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). K6fs has not been characterized, however, due to the effects of other truncation mutations downstream of K6 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN K6fs

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Transcript NM_000314.8
gDNA chr10:g.(87864484_87864485)
cDNA c.(16_15)
Protein p.K6fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87864484_87864485) c.(16_15) p.K6fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87864484_87864485delCA c.15_16delCA p.K6fs*4 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87864484_87864485) c.(16_15) p.K6fs RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
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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
PTEN K6fs endometrial cancer sensitive TAS0612 Preclinical - Cell line xenograft Actionable In a preclinical study, TAS0612 inhibited proliferation in an endometrial cancer cell line harboring PTEN K6fs along with PIK3CA mutations in culture and induced tumor regression in a cell line xenograft model (PMID: 37906695). 37906695