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Gene | RET |
Variant | Y791F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET Y791F lies within the protein kinase domain of the Ret protein (UniProt.org). Y791F results in ligand-independent kinase activity and activation of Stat3 signaling and is transforming in cell culture (PMID: 17209045, PMID: 15753368), but does not respond to growth factor stimulation in culture (PMID: 17209045) and results in enteric nervous system development similar to wild-type in a transgenic mouse model (PMID: 32275061), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET Y791X RET Y791F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43118460A>T |
cDNA | c.2372A>T |
Protein | p.Y791F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.7 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_001406779.1 | chr10:g.43128193A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_001406780.1 | chr10:g.43128193A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43118460A>T | c.2372A>T | p.Y791F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET Y791F | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical - Biochemical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET Y791F in culture (PMID: 23526464). | 23526464 |
RET Y791F | Advanced Solid Tumor | sensitive | Vandetanib | Preclinical | Actionable | In a preclinical study, Caprelsa (vandetanib) inhibited Ret autophosphorylation in transformed cells expressing RET Y791F in culture (PMID: 15184865). | 15184865 |