Gene Variant Detail

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Gene PTEN
Variant K128_R130del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions PTEN K128_R130del results in the deletion of 3 amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 128 to 130 (UniProt.org). K128_R130del confers a loss of function on the Pten protein as indicated by failure to regulate glucose uptake and to dephosphorylate AKT in cell culture (PMID: 27829222).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN K128_R130del

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Transcript NM_000314.8
gDNA chr10:g.87933142_87933150delAGGGACGAA
cDNA c.383_391delAGGGACGAA
Protein p.K128_R130delKGR
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933142_87933150delAGGGACGAA c.383_391delAGGGACGAA p.K128_R130delKGR RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933142_87933150delAGGGACGAA c.383_391delAGGGACGAA p.K128_R130delKGR RefSeq GRCh38/hg38
NM_001304718 chr10:g.87961065_87961073delCTTGACAAA c.382_390delCTTGACAAA p.L128_K130delLDK RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864332_87864340delCAGAGCCAA c.382_390delCAGAGCCAA p.Q128_Q130delQSQ RefSeq GRCh38/hg38
NM_000314 chr10:g.87933142_87933150delAGGGACGAA c.383_391delAGGGACGAA p.K128_R130delKGR RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87961065_87961073delCTTGACAAA c.382_390delCTTGACAAA p.L128_K130delLDK RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864332_87864340delCAGAGCCAA c.382_390delCAGAGCCAA p.Q128_Q130delQSQ RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864332_87864340delCAGAGCCAA c.382_390delCAGAGCCAA p.Q128_Q130delQSQ RefSeq GRCh38/hg38
NM_001304718.1 chr10:g.87961065_87961073delCTTGACAAA c.382_390delCTTGACAAA p.L128_K130delLDK RefSeq GRCh38/hg38

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