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Gene | PTEN |
Variant | L247_P248del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L247_P248del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 247 to 248 (UniProt.org). L247_P248del has not been biochemically characterized, but results in increased transformation ability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L247_P248del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957957_87957962delTTACCT |
cDNA | c.739_744delTTACCT |
Protein | p.L247_P248delLP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957957_87957962delTTACCT | c.739_744delTTACCT | p.L247_P248delLP | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87931056_87931061delAGACAT | c.739_744delAGACAT | p.R247_H248delRH | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957957_87957962delTTACCT | c.739_744delTTACCT | p.L247_P248delLP | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87931056_87931061delAGACAT | c.739_744delAGACAT | p.R247_H248delRH | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957957_87957962delTTACCT | c.739_744delTTACCT | p.L247_P248delLP | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87931056_87931061delAGACAT | c.739_744delAGACAT | p.R247_H248delRH | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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