RET C634L
Gene Variant Detail

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Gene RET
Variant C634L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C634L lies within the cysteine-rich region of the Ret protein (PMID: 9879991). C634L results in ligand-independent dimerization of Ret and increased cell proliferation in culture (PMID: 27841748).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C634L

RET mutant RET C634X RET C634L

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Transcript NM_020975.6
gDNA chr10:g.43114500_43114501delTGinsCT
cDNA c.1900_1901delTGinsCT
Protein p.C634L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_020630 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123795_43123796delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123795_43123796delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114500_43114501delTGinsCT c.1900_1901delTGinsCT p.C634L RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C634L medullary thyroid carcinoma sensitive Selpercatinib FDA approved - On Companion Diagnostic Actionable In a Phase I/II trial (LIBRETTO-001) that supported FDA approval, Retevmo (selpercatinib) treatment resulted in an objective response rate (ORR) of 69% (38/55, 5 complete and 33 partial responses) in previously treated adult and pediatric patients of 12 years and older with medullary thyroid cancer harboring RET mutations as detected by an approved test, including RET C634L; ORR was 73% (64/88) in treatment naive patients (PMID: 32846061; NCT03157128). detail... detail... 32846061