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| Gene | RET |
| Variant | L730Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RET L730Q lies within the protein kinase domain of the Ret protein (UniProt.org). L730Q has been identified in the scientific literature (PMID: 37743366), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET L730Q |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43116636T>A |
| cDNA | c.2189T>A |
| Protein | p.L730Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406761.1 | chr10:g.43118406T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43116636T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_001406764.1 | chr10:g.43118406T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43116636T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43116636T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43116636T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_001406762.1 | chr10:g.43118406T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43116636T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43116636T>A | c.2189T>A | p.L730Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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