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Gene | RET |
Variant | L790F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET L790F lies within the protein kinase domain of the Ret protein (UniProt.org). L790F results in ligand-independent phosphorylation of Ret (PMID: 15184865, PMID: 23526464), however, also results in cell proliferation and transformation activity similar to wild-type Ret in cell culture (PMID: 21810974, PMID: 32546069), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET L790X RET L790F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43118458G>T |
cDNA | c.2370G>T |
Protein | p.L790F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43118458G>T | c.2370G>T | p.L790F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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