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Gene | RET |
Variant | R600Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET R600Q lies within the extracellular domain of the Ret protein (UniProt.org). R600Q has been identified in the scientific literature (PMID: 10612852, PMID: 22722839, PMID: 33827484), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET R600Q |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113595G>A |
cDNA | c.1799G>A |
Protein | p.R600Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406790.1 | chr10:g.43124926_43124927delAGinsCA | c.1798_1799delAGinsCA | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406788.1 | chr10:g.43124926_43124927delAGinsCA | c.1798_1799delAGinsCA | p.R600Q | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43113595G>A | c.1799G>A | p.R600Q | RefSeq | GRCh38/hg38 |
NM_001406789.1 | chr10:g.43124926_43124927delAGinsCA | c.1798_1799delAGinsCA | p.R600Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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