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 | D631Y |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET D631Y lies within the extracellular domain of the Ret protein (UniProt.org). D631Y confers a gain of function on the Ret protein as demonstrated by induction of covalent Ret dimerization and phosphorylation (PMID: 10049754), increased Erk phosphorylation (PMID: 36166639), and transformation of cultured cells (PMID: 10049754, PMID: 36166639). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET act mut RET D631Y |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114491G>T |
| cDNA | c.1891G>T |
| Protein | p.D631Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_020975.6 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RET D631Y | Advanced Solid Tumor | sensitive | Selpercatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Retevmo (selpercatinib) inhibited viability in transformed cells expressing RET D631Y in culture (PMID: 36166639). | 36166639 |
| RET D631Y | Advanced Solid Tumor | sensitive | Pralsetinib | Preclinical - Cell culture | Actionable | In a preclinical study, Gavreto (pralsetinib) inhibited viability in transformed cells expressing RET D631Y in culture (PMID: 36166639). | 36166639 |