Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | RET |
| Variant | D571N |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET D571N lies within the extracellular domain of the Ret protein (UniProt.org). D571N 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 D571N |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43112915G>A |
| cDNA | c.1711G>A |
| Protein | p.D571N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020975.6 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_001406763.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_001406765.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43112915G>A | c.1711G>A | p.D571N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET D571N | Advanced Solid Tumor | sensitive | Selpercatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Retevmo (selpercatinib) inhibited Ret signaling in transformed cells expressing RET D571N in culture (PMID: 36166639). | 36166639 |
| RET D571N | Advanced Solid Tumor | sensitive | Pralsetinib | Preclinical - Biochemical | Actionable | In a preclinical study, Gavreto (pralsetinib) inhibited Ret signaling in transformed cells expressing RET D571N in culture (PMID: 36166639). | 36166639 |