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Gene | RET |
Variant | I590_G607del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | RET I590_G607del results in the deletion of 18 amino acids in the extracellular domain of the Ret protein from amino acids 590 to 607 (UniProt.org). I590_G607del has been identified in the scientific literature (PMID: 35616103), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Mar 2023). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET I590_G607del |
Transcript | NM_020975.5 |
gDNA | chr10:g.43113565_43113618del54 |
cDNA | c.1769_1822del54 |
Protein | p.I590_G607del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.5 | chr10:g.43113565_43113618del54 | c.1769_1822del54 | p.I590_G607del | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43113565_43113618del54 | c.1769_1822del54 | p.I590_G607del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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