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|Synonyms||ASV | c-SRC | p60-Src | SRC1 | THC6|
|Gene Description||SRC, SRC proto-oncogene, non-receptor tyrosine kinase, is a member of mutliple signaling pathways, playing a role in a variety of cellular processes including proliferation, differentiation, survival, motility, and angiogenesis (PMID: 19581523). Activation and/or overexpression of SRC has been observed in many cancers (PMID: 24788409), and SRC activating mutations, although rare, have been identified in colon cancer (PMID: 9988270, PMID: 19581523).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||SRC act mut indicates that this variant results in a gain of function in the Src protein. However, the specific amino acid change has not been identified.|
|inact mut||unknown||loss of function||SRC inact mut indicates that this variant results in a loss of function of the Src protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||SRC mutant indicates an unspecified mutation in the SRC gene.|
|Q256fs||frameshift||loss of function - predicted||SRC Q256fs results in a change in the amino acid sequence of the Src protein beginning at aa 256 of 536, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of protein kinase domain (UniProt.org), Q256fs is predicted to lead to a loss of Src protein function.|