PTEN C124N
Gene Variant Detail

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Gene PTEN
Variant C124N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN C124N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124N results in a loss of phosphatase activity in yeast (PMID: 21828076), 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 C124N

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Transcript NM_000314.8
gDNA chr10:g.87933129_87933130delTGinsAA
cDNA c.370_371delTGinsAA
Protein p.C124N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933129_87933130delTGinsAA c.370_371delTGinsAA p.C124N RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933129_87933130delTGinsAA c.370_371delTGinsAA p.C124N RefSeq GRCh38/hg38
NM_000314 chr10:g.87933129_87933130delTGinsAA c.370_371delTGinsAA p.C124N RefSeq GRCh38/hg38

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