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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_001406759.1 | 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_001406744.1 | 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_020630 | 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 |
NM_001406774.1 | chr10:g.43123698G>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_020975.5 | chr10:g.43118392G>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_001406760.1 | 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 |