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Gene | RET |
Variant | S904F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET S904F lies within the protein kinase domain of the Ret protein (UniProt.org). S904F has been associated with drug resistance in the context of CCDC6-RET (PMID: 29434222), and results in increased foci formation and autophosphorylation, but demonstrates cell proliferation similar to wild-type in culture (PMID: 21810974, PMID: 29434222), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
RET mutant RET S904F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120184C>T |
cDNA | c.2711C>T |
Protein | p.S904F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |