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Gene | RET |
Variant | D584N |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET D584N lies within the extracellular domain of the Ret protein (UniProt.org). D584N confers a gain of function to Ret as demonstrated by increased Erk phosphorylation and IL3-independent growth in culture (PMID: 36166639). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET D584N |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112954G>A |
cDNA | c.1750G>A |
Protein | p.D584N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406762.1 | chr10:g.43113675G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406764.1 | chr10:g.43113675G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406761.1 | chr10:g.43113675G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43112954G>A | c.1750G>A | p.D584N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET D584N | Advanced Solid Tumor | sensitive | Selpercatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Retevmo (selpercatinib) inhibited Ret signaling in transformed cells expressing RET D584N in culture (PMID: 36166639). | 36166639 |
RET D584N | Advanced Solid Tumor | sensitive | Pralsetinib | Preclinical - Biochemical | Actionable | In a preclinical study, Gavreto (pralsetinib) inhibited Ret signaling in transformed cells expressing RET D584N in culture (PMID: 36166639). | 36166639 |