Gene Variant Detail

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Gene PTEN
Variant N212Kfs*10
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN N212Kfs*10 indicates a shift in the reading frame starting at amino acid 212 and terminating 10 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). N212Kfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of N212 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN N212Kfs*10

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Transcript NM_000314.8
gDNA chr10:g.87957853_87957854insAA
cDNA c.635_636insAA
Protein p.N212Kfs*10
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87957853_87957854insAG c.635_636insAG p.N212Kfs*10 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957853_87957854insAA c.635_636insAA p.N212Kfs*10 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957853_87957854insAA c.635_636insAA p.N212Kfs*10 RefSeq GRCh38/hg38

Filtering

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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