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Gene | RET |
Variant | V804E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET V804E lies within the protein kinase domain of the Ret protein (UniProt.org). V804E has been demonstrated to confer drug resistance in the context of a RET fusion in culture (PMID: 29657135), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, May 2025). |
Associated Drug Resistance | Y |
Category Variants Paths |
RET mutant RET V804X RET V804E |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119549T>A |
cDNA | c.2411T>A |
Protein | p.V804E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |