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Gene RET
Variant D378_G385delinsE
Impact List indel
Protein Effect unknown
Gene Variant Descriptions RET D378_G385delinsE results in a deletion of eight amino acids within the extracellular domain of the Ret protein from amino acid 378 to 385, combined with the insertion of a glutamic acid (E) at the same location (UniProt.org). D378_G385delinsE has been identified in the scientific literature (PMID: 32923911), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

RET mutant RET D378_G385delinsE

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Transcript NM_020975.6
gDNA chr10:g.43109101_43109121del21
cDNA c.1134_1154del21
Protein p.D378_G385delinsE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.6 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43109101_43109121del21 c.1134_1154del21 p.D378_G385delinsE RefSeq GRCh38/hg38

Filtering

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  • 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 D378_G385delinsE medullary thyroid carcinoma predicted - sensitive Vandetanib Case Reports/Case Series Actionable In a clinical case study, Caprelsa (vandetanib) treatment resulted in an ongoing biochemical response for more than 6 months in a pediatric patient 16 years old with metastatic medullary thyroid carcinoma harboring RET D378_G385delinsE (PMID: 28209747). 28209747
RET D378_G385delinsE medullary thyroid carcinoma predicted - sensitive Selpercatinib Case Reports/Case Series Actionable In a clinical case study, a pediatric patient with heavily pretreated medullary thyroid cancer harboring RET D378_G385delinsE achieved a partial response after 8 weeks of Retevmo (selpercatinib) treatment, with an 86% reduction in tumor size after 40 weeks, and remained progression-free after 27 months (PMID: 32923911; NCT03157128). 32923911