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Gene | RET |
Variant | M848T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET M848T lies within the protein kinase domain of the Ret protein (UniProt.org). M848T results in increased cell proliferation and foci formation in culture (PMID: 21810974), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET M848T |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119681T>C |
cDNA | c.2543T>C |
Protein | p.M848T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43123808T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43119681T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43123808T>C | c.2543T>C | p.M848T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET M848T | gain of function - predicted | RET Inhibitor |