Gene Detail

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Gene Symbol FOXL2
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).

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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.