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Gene | PTEN |
Variant | R47M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN R47M lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R47M has been identified in sequencing studies (PMID: 39394200), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN R47M |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894085G>T |
cDNA | c.140G>T |
Protein | p.R47M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87864088_87864089delCGinsAT | c.139_140delCGinsAT | p.R47M | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87894085G>T | c.140G>T | p.R47M | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894085G>T | c.140G>T | p.R47M | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864088_87864089delCGinsAT | c.139_140delCGinsAT | p.R47M | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864088_87864089delCGinsAT | c.139_140delCGinsAT | p.R47M | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87894085G>T | c.140G>T | p.R47M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN R47M | unknown |