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Gene RET
Variant C618S
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET C618S lies within the extracellular domain of the Ret protein (UniProt.org). C618S is transforming in cell culture (PMID: 9230192), and therefore, is predicted to lead to a gain of Ret protein function.
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C618S

RET mutant RET C618X RET C618S

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Transcript NM_020975.6
gDNA chr10:g.43113648T>A
cDNA c.1852T>A
Protein p.C618S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_020975 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113648T>A c.1852T>A p.C618S RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C618S malignant pheochromocytoma predicted - sensitive Selpercatinib Case Reports/Case Series Actionable In a Phase I/II trial (LIBRETTO-001), Retevmo (selpercatinib) treatment resulted in a partial response lasting 3.8 months in a patient with metastatic pheochromocytoma harboring RET C618S (PMID: 38661071; NCT03157128). 38661071