Gene Detail

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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).

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Molecular Profile Protein Effect Treatment Approaches
FANCL A192G unknown
FANCL A51T unknown
FANCL C307G unknown
FANCL D306* loss of function - predicted Olaparib
FANCL D35Y unknown
FANCL E215Q unknown
FANCL E217K loss of function Olaparib
FANCL E289Q unknown
FANCL F110S unknown
FANCL F252L unknown
FANCL F36L unknown
FANCL G27V unknown
FANCL G317S unknown
FANCL H375R unknown
FANCL I136V unknown
FANCL I336_C337delinsS loss of function Olaparib
FANCL inact mut loss of function Olaparib
FANCL L149V unknown
FANCL L154S unknown
FANCL L38F unknown
FANCL M247V loss of function Olaparib
FANCL M305V unknown
FANCL mutant unknown
FANCL N270K unknown
FANCL Q18* loss of function - predicted Olaparib
FANCL Q71H unknown
FANCL Q99H unknown
FANCL R10G unknown
FANCL R221W loss of function Olaparib
FANCL R68P unknown
FANCL R68Q unknown
FANCL R73I unknown
FANCL S301F unknown
FANCL T224K loss of function Olaparib
FANCL T367fs loss of function - predicted Olaparib
FANCL T367I unknown
FANCL T367Nfs*13 loss of function - predicted Olaparib
FANCL V287G unknown