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Gene PTEN
Variant C124Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN C124Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124Y has been identified in sequencing studies (PMID: 12695913, PMID: 37686092, PMID: 21869887), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN C124Y

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Transcript NM_000314.8
gDNA chr10:g.87933130G>A
cDNA c.371G>A
Protein p.C124Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933130G>A c.371G>A p.C124Y RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933130G>A c.371G>A p.C124Y RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933130G>A c.371G>A p.C124Y RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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