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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_020630.7 | 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_020630.5 | chr10:g.43114491G>T | c.1891G>T | p.D631Y | RefSeq | GRCh38/hg38 |
NM_020975.6 | 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 |
NM_020975 | 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_001406759.1 | 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_001406744.1 | 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 |