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| Gene | RET |
| Variant | E768D |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET E768D lies within the protein kinase domain of the Ret protein (UniProt.org). E768D results in increased Ret autophosphorylation and is transforming in cell culture (PMID: 10445857). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET act mut RET E768D RET mutant RET E768X RET E768D |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43118392G>C |
| cDNA | c.2304G>C |
| Protein | p.E768D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020975.5 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_001406774.1 | chr10:g.43123698G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43118392G>C | c.2304G>C | p.E768D | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET E768D | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET E768D in culture (PMID: 23526464). | 23526464 |
| RET E768D | Advanced Solid Tumor | sensitive | Vandetanib | Preclinical | Actionable | In a preclinical study, Caprelsa (vandetanib) inhibited Ret autophosphorylation in transformed cells expressing RET E768D in culture (PMID: 15184865). | 15184865 |