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|Synonyms||BPES | BPES1 | PFRK | PINTO | POF3|
|Gene Description||FOXL2, forkhead box L2, encodes for a transcription factor that is a member of the forked-winged helix family and plays a role in ovary development (PMID: 21640373). FOXL2 is commonly mutated in granulosa-cell tumors (PMID: 19956657, PMID: 31162286), including of the ovary (PMID: 32064045).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|act mut||unknown||gain of function||FOXL2 act mut indicates that this variant results in a gain of function in the Foxl2 protein. However, the specific amino acid change has not been identified.|
|inact mut||unknown||loss of function||FOXL2 inact mut indicates that this variant results in a loss of function of the Foxl2 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||FOXL2 mutant indicates an unspecified mutation in the FOXL2 gene.|
|A253fs||frameshift||loss of function - predicted||FOXL2 A253fs results in a change in the amino acid sequence of the Foxl2 protein beginning at aa 253 of 376, likely resulting in premature truncation of the functional protein (UniProt.org). A253fs results in impaired transactivation capacity of Foxl2 protein in culture (PMID: 19515849).|
|I63fs||frameshift||loss of function - predicted||FOXL2 I63fs results in a change in the amino acid sequence of the Foxl2 protein beginning at aa 63 of 376, likely resulting in a premature truncation of the functional protein (UniProt.org). Due to a loss of the DNA binding domain (UniProt.org), I63fs is predicted to result in a loss of Foxl2 protein function.|