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Gene | RET |
Variant | A883T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET A883T lies within the protein kinase domain of the Ret protein (UniProt.org). A883T results in increased cell proliferation and foci formation in culture (PMID: 21810974), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET A883X RET A883T RET mutant RET act mut RET A883T |
Transcript | NM_020975.6 |
gDNA | chr10:g.43120120G>A |
cDNA | c.2647G>A |
Protein | p.A883T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43120120G>A | c.2647G>A | p.A883T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
HRAS A59T RET A883F RET A883T | medullary thyroid carcinoma | predicted - resistant | Pralsetinib | Case Reports/Case Series | Actionable | In a retrospective analysis, a medullary thyroid carcinoma patient harboring RET A883T progressed on treatment with Gavreto (pralsetinib) and was found to have acquired RET A883F and HRAS A59T (PMID: 38127829; NCT03157128, NCT03037385, NCT03780517). | 38127829 |