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Gene | PTEN |
Variant | R308C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN R308C lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R308C has been identified in the scientific literature (PMID: 32754865), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN R308C |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961014C>T |
cDNA | c.922C>T |
Protein | p.R308C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87961014C>T | c.922C>T | p.R308C | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961014C>T | c.922C>T | p.R308C | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961014C>T | c.922C>T | p.R308C | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN R308C | unknown |