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Gene | PTEN |
Variant | Y346H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Y346H lies within the C2 tensin-type domain of the Pten protein (UniProt.org). Y346H has not been characterized and therefore, its effect on Pten protein function is unknown (PubMed, May 2025). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Y346H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965296T>C |
cDNA | c.1036T>C |
Protein | p.Y346H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |