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Gene | RET |
Variant | C620R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET C620R lies within the extracellular domain of the Ret protein (PMID: 9230192). C620R results in decreased cell surface Ret expression, but also results in increased Ret and Shc phosphorylation, activation of transcription in a reporter assay, transformation in cell culture (PMID: 9879991, PMID: 9230192), increased Erk phosphorylation and IL3-independent growth in culture (PMID: 36166639). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C620R RET mutant RET C620X RET C620R |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113654T>C |
cDNA | c.1858T>C |
Protein | p.C620R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |