PTEN G251D
Gene Variant Detail

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Gene PTEN
Variant G251D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN G251D lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G251D is associated with decreased Pten protein level and increased phosphorylation of Akt and S6 in a patient tumor sample (PMID: 25003235), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN G251D

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Transcript NM_000314.8
gDNA chr10:g.87957970G>A
cDNA c.752G>A
Protein p.G251D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87957970G>A c.752G>A p.G251D RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957970G>A c.752G>A p.G251D RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957970G>A c.752G>A p.G251D 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 )
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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