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Gene | RET |
Variant | E884K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET E884K lies within the protein kinase domain of the Ret protein (UniProt.org). E884K has been identified in the scientific literature (PMID: 10622534, PMID: 19029224, PMID: 28351340), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET E884K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120123G>A |
cDNA | c.2650G>A |
Protein | p.E884K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43120123G>A | c.2650G>A | p.E884K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET E884K | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET E884K in culture (PMID: 23526464). | 23526464 |