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| Gene | RET |
| Variant | R694Q |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | RET R694Q lies within the cytoplasmic domain of the Ret protein (UniProt.org). R694Q fails to transform cells (PMID: 15472167) and results in Ret phosphorylation (PMID: 15472167, PMID: 26395553) and phosphorylation of Erk similar to wild-type Ret in cell culture (PMID: 26395553). |
| Associated Drug Resistance | |
| Category Variants Paths |
RET mutant RET R694Q |
| Transcript | NM_020975.6 |
| gDNA | chr10:g.43114681G>A |
| cDNA | c.2081G>A |
| Protein | p.R694Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001406744.1 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_020630.7 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_020630.5 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_001406759.1 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_020975.5 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_001406788.1 | chr10:g.43128189_43128190delAGinsCA | c.2080_2081delAGinsCA | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_001406760.1 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_020975.6 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_001406743.1 | chr10:g.43114681G>A | c.2081G>A | p.R694Q | RefSeq | GRCh38/hg38 |
| NM_001406789.1 | chr10:g.43128189_43128190delAGinsCA | c.2080_2081delAGinsCA | p.R694Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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