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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 |