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Gene RET
Variant C634F
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET C634F lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634F 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 C634F

RET mutant RET C634X RET C634F

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Transcript NM_020975.6
gDNA chr10:g.43114501G>T
cDNA c.1901G>T
Protein p.C634F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.7 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_020630 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123796G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_020975 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123796G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114501G>T c.1901G>T p.C634F RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114501G>T c.1901G>T p.C634F 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 C634F medullary thyroid carcinoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a Phase II trial, Nexavar (sorafenib) treatment resulted in stable disease in one patient with medullary thyroid carcinoma harboring RET C634F (PMID: 20368568; NCT00390325). 20368568
RET C634F 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 with treatment lasting 37 months in a patient with metastatic pheochromocytoma harboring germline RET C634F (PMID: 38661071; NCT03157128). 38661071