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Gene | RET |
Variant | T930P |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET T930P lies within the protein kinase domain of the Ret protein (UniProt.org). T930P results in Erk phosphorylation similar to wild-type Ret but cytokine-independent growth in culture (PMID: 32284345), 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 T930P |
Transcript | NM_020975.6 |
gDNA | chr10:g.43122003A>C |
cDNA | c.2788A>C |
Protein | p.T930P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406759.1 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43122003A>C | c.2788A>C | p.T930P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET T930P | gain of function - predicted | RET Inhibitor |