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Gene | RET |
Variant | V804E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET V804E lies within the protein kinase domain of the Ret protein (UniProt.org). V804E has been demonstrated to confer drug resistance in the context of a RET fusion in culture (PMID: 29657135), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
RET mutant RET V804X RET V804E |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119549T>A |
cDNA | c.2411T>A |
Protein | p.V804E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43119549T>A | c.2411T>A | p.V804E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RET V804E | Advanced Solid Tumor | predicted - sensitive | APS03118 | Preclinical - Biochemical | Actionable | In a preclinical study, APS03118 inhibited the enzymatic activity of RET V804E in an in vitro assay (J Clin Oncol 40, no. 16_suppl (June 1, 2022)). | detail... |
RET V804E | Advanced Solid Tumor | predicted - sensitive | TY-1091 | Preclinical - Biochemical | Actionable | In a preclinical study, TY-1091 inhibited activity in a cell line expressing RET V804E in culture (Cancer Res (2023) 83 (7_Supplement): 3419). | detail... |