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| Gene | RET |
| Variant | C620R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | RET C620R lies within the extracellular domain of the Ret protein (PMID: 9230192). C620R results in decreased cell surface Ret expression, but also results in increased Ret and Shc phosphorylation, activation of transcription in a reporter assay, transformation in cell culture (PMID: 9879991, PMID: 9230192), increased Erk phosphorylation and IL3-independent growth in culture (PMID: 36166639). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET act mut RET C620R RET mutant RET C620X RET C620R |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43113654T>C |
| cDNA | c.1858T>C |
| Protein | p.C620R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406759.1 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_001406765.1 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_001406744.1 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_001406763.1 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_020975 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| NM_020630 | chr10:g.43113654T>C | c.1858T>C | p.C620R | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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