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What is this request referring to?
Switch-of-function variant
What is the name you would like SO to give the term?
switch_of_function_variant
What is the definition that you would like for this term?
The alteration causes the protein to acquire a new function, such as the neomorphic ability of the IDH1 R132H-mutant protein to produce D-2-hydroxyglutarate. https://faq.oncokb.org/data-curation#what-does-switch-of-function-mean
Synonyms
NA
Parent Term
It could be put under gain_of_function_variant (SO:0002053).
Would it be correct to instead add switch_of_function_variant as a synonym of gain_of_function_variant or is there something that differentiates the two? Does switch_of_function_variant apply specifically to protein products or could it also be used to describe changes in the function of other gene products?
Researching this again, gain_of_function variant may not be the appropriate parent term or synonym as switch of function is more of an intermediate term that can involve both gain and loss of function.
What is this request referring to?
Switch-of-function variant
What is the name you would like SO to give the term?
switch_of_function_variant
What is the definition that you would like for this term?
The alteration causes the protein to acquire a new function, such as the neomorphic ability of the IDH1 R132H-mutant protein to produce D-2-hydroxyglutarate.
https://faq.oncokb.org/data-curation#what-does-switch-of-function-mean
Synonyms
NA
Parent Term
It could be put under gain_of_function_variant (SO:0002053).
Relevant Publications
https://faq.oncokb.org/data-curation#what-does-switch-of-function-mean
https://pubmed.ncbi.nlm.nih.gov/28890946/
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