PTEN NP_000305.3:p.L182 Frameshift

Preferred Label : PTEN NP_000305.3:p.L182 Frameshift;

NCIt synonyms : Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN Leu182fs; Phosphatase and Tensin-Like Protein Leu182fs; NP_000305.3:p.L182fs; PTEN p.L182fs; PTEN Tyrosine Phosphatase L182fs; PTEN L182fs; NP_000305.3:p.Leu182fs; PTEN p.Leu182fs; PTEN NP_000305.3:p.L182fs; PTEN Tyrosine Phosphatase Leu182fs; PTEN Leu182fs; Mutated in Multiple Advanced Cancers 1 L182fs; Phosphatase and Tensin Homolog L182fs; Phosphatase and Tensin-Like Protein L182fs; Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN L182fs; PTEN NP_000305.3:p.Leu182fs; Mutated in Multiple Advanced Cancers 1 Leu182fs; Phosphatase and Tensin Homolog Leu182fs;

NCIt definition : A change in the amino acid residue at position 182 in the phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN protein where leucine has been replaced one or more non-canonical amino acids followed by a stop codon.;

NCI Metathesaurus CUI : CL1378836;

PubMed : 31026031;

Details

Origin ID

C169023;

UMLS CUI

C5239577;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN [NCIt concept]
molecular_abnormality_involves_gene
- PTEN Gene [NCIt concept]

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