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Gene Symbol FANCL
Synonyms FAAP43 | PHF9 | POG
Gene Description FANCL, Fanconi anemia, complementation group L, is a member of the Fanconi anemia core complex, which plays a role in DNA repair (PMID: 27145721, PMID: 24905007). Germline FANCL mutations are associated with Fanconi anemia, which involves predisposition to various cancers, and are associated with hereditary breast cancer (PMID: 25237197, PMID: 26822949).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
55120 2 2p16.1 NM_018062 Unknown

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function FANCL inact mut indicates that this variant results in a loss of function of the Fancl protein. However, the specific amino acid change has not been identified.
mutant unknown unknown FANCL mutant indicates an unspecified mutation in the FANCL gene.
T367fs frameshift loss of function - predicted FANCL T367fs results in a change in the amino acid sequence of the Fancl protein beginning at aa 367 of 375, likely resulting in premature truncation of the functional protein (UniProt.org). T367fs demonstrates decreased affinity for other Fanconi anemia proteins compared to wild-type Fancl, and results in a partial rescue of DNA damaging agent-induced cell-cycle arrest and chromosomal defects in cells lacking Fancl in culture (PMID: 19405097), and therefore is predicted to result in a loss of Fancl protein function.