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Gene | RET |
Variant | A883F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET A883F lies within the protein kinase domain of the Ret protein (UniProt.org). A883F confers a gain of function to the Ret protein as demonstrated by increased Ret kinase activity (PMID: 24561444) and is transforming in cell culture (PMID: 10445857, PMID: 10679286). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET A883X RET A883F RET mutant RET act mut RET A883F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120120_43120121delGCinsTT |
cDNA | c.2647_2648delGCinsTT |
Protein | p.A883F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406760.1 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43120120_43120121delGCinsTT | c.2647_2648delGCinsTT | p.A883F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET A883F | Advanced Solid Tumor | sensitive | Ponatinib | Preclinical | Actionable | In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET A883F in culture (PMID: 23526464). | 23526464 |
RET A883F | Advanced Solid Tumor | sensitive | Vandetanib | Preclinical | Actionable | In a preclinical study, Caprelsa (vandetanib) inhibited Ret autophosphorylation in transformed cells expressing RET A883F in culture (PMID: 15184865). | 15184865 |