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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
A192G missense unknown FANCL A192G lies within the UBC-RWD region of the Fancl protein (UniProt.org). A192G results in decreased Fancd2 binding, but demonstrates Fancd2 ubiquitination activity comparable to wild-type protein in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
A51T missense unknown FANCL A51T does not lie within any known functional domains of the Fancl protein (UniProt.org). A51T has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
C307G missense unknown FANCL C307G lies within the RING-type zinc finger domain of the Fnacl protein (UniProt.org). C307G has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
D306* nonsense loss of function - predicted FANCL D306* results in a premature truncation of the Fancl protein at aa 306 of 375 (UniProt.org). D306* is predicted to lead to a loss of Fancl protein function as indicated by a loss of binding to Ube2w in a yeast two-hybrid assay (PMID: 21229326).
D35Y missense unknown FANCL D35Y does not lie within any known functional domains of the Fancl protein (UniProt.org). D35Y has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
E215Q missense unknown FANCL E215Q lies within the UBC-RWD region of the Fancl protein (UniProt.org). E215Q results in a statistically insignificant decrease of Fancd2 binding and Fancd2 ubiquitination comparable to wild-type Fancl in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
E217K missense loss of function FANCL E217K lies within the UBC-RWD region of the Fancl protein (UniProt.org). E217K results in Fancd2 binding similar to wild-type Fancl, but decreased Fancd2 ubiquitination in an in vitro assay, and decreased ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600).
E289Q missense unknown FANCL E289Q lies within the UBC-RWD region of the Fancl protein (UniProt.org). E289Q results in decreased Fancd2 interaction, but demonstrates Fancd2 ubiquitination activity comparable to wild-type Fancl in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
F110S missense unknown FANCL F110S lies within the UBC-RWD region of the Fancl protein (UniProt.org). F110S results in increased Fancd2 binding, but demonstrates Fancd2 ubiquitination activity comparable to wild-type protein in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
F252L missense unknown FANCL F252L lies within the UBC-RWD region of the Fancl protein (UniProt.org). F252L results in decreased Fancd2 ubiquitination in an in vitro assay, but binds Fancd2 to levels comparable to wild-type Fancl and rescues G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
F36L missense unknown FANCL F36L does not lie within any known functional domains of the Fancl protein (UniProt.org). F36L has been identified in sequencing studies (PMID: 30301958), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
G27V missense unknown FANCL G27V does not lie within any known functional domains of the Fancl protein (UniProt.org). G27V has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
G317S missense unknown FANCL G317S lies within the RING-type zinc finger domain of the Fancl protein (UniProt.org). G317S has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
H375R missense unknown FANCL H375R does not lie within any known functional domains of the Fancl protein (UniProt.org). H375R has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
I136V missense unknown FANCL I136V lies within the UBC-RWD region of the Fancl protein (UniProt.org). I136V results in improper folding of Fancl protein in an in vitro assay (PMID: 32420600), but has not been fully biochemically characterized and therefore, its effect on Fancl protein function is unknown.
I336_C337delinsS indel loss of function FANCL I336_C337delinsS results in a deletion of two amino acids in the RING-type Zinc finger domain of the Fancl protein from amino acids 336 to 337, combined with the insertion of a serine (S) at the same site (UniProt.org). I336_C337delinsS results in decreased bonding to core complex factors and failure to rescue cell-cycle arrest, FANCD2 monoubiquitination, MMC sensitivity, and chromosomal breakage in Fancl-null cells in culture (PMID: 19405097).
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.
L149V missense unknown FANCL L149V lies within the UBC-RWD region of the Fancl protein (UniProt.org). L149V results in decreased Fancd2 binding, but demonstrates Fancd2 ubiquitination activity comparable to wild-type Fancl in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
L154S missense unknown FANCL L154S lies within the UBC-RWD region of the Fancl protein (UniProt.org). L154S results in decreased protein thermal stability and Fancd2 binding, but demonstrates Fancd2 ubiquitination activity comparable to wild-type Fancl in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
L38F missense unknown FANCL L38F does not lie within any known functional domains of the Fancl protein (UniProt.org). L38F has been identified in sequencing studies (PMID: 29891941, PMID: 28881617), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
M247V missense loss of function FANCL M247V lies within the UBC-RWD region of the Fancl protein (UniProt.org). M247V results in decreased Fancd2 binding and ubiquitination in in vitro assays, and decreased ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600).
M305V missense unknown FANCL M305V does not lie within any known functional domains of the Fancl protein (UniProt.org). M305V has not been characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
mutant unknown unknown FANCL mutant indicates an unspecified mutation in the FANCL gene.
N270K missense unknown FANCL N270K lies within the UBC-RWD region of the Fancl protein (UniProt.org). N270K results in decreased Fancd2 interaction, but results in similar ubiquitination of Fancd2 to wild-type Fancl in in vitro assays (PMID: 32420600), and therefore, its effect on Fancl protein function is unknown.
Q18* nonsense loss of function - predicted FANCL Q18* results in a premature truncation of the Fancl protein at aa 18 of 375 (UniProt.org). Due to the loss of the PHD domain (PMID: 21229326), Q18* is predicted to lead to a loss of Fancl protein function.
Q71H missense unknown FANCL Q71H does not lie within any known functional domains of the Fancl protein (UniProt.org). Q71H has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
Q99H missense unknown FANCL Q99H does not lie within any known functional domains of the Fancl protein (UniProt.org). Q99H has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
R10G missense unknown FANCL R10G does not lie within any known functional domains of the Fancl protein (UniProt.org). R10G has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Mar 2024).
R221W missense loss of function FANCL R221W lies within the UBC-RWD region of the Fancl protein (UniProt.org). R221W results in decreased Fancl protein thermal stability, Fancd2 binding and ubiquitination in in vitro assays, and reduced ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600).
R68P missense unknown FANCL R68P does not lie within any known functional domains of the Fancl protein (UniProt.org). R68P has been identified in sequencing studies (PMID: 28881617, PMID: 25550361, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
R68Q missense unknown FANCL R68Q does not lie within any known functional domains of the Fancl protein (UniProt.org). R68Q has been identified in the scientific literature (PMID: 37197634), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
R73I missense unknown FANCL R73I does not lie within any known functional domains of the Fancl protein (UniProt.org). R73I has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
S301F missense unknown FANCL S301F does not lie within any known functional domains of the Fancl protein (UniProt.org). S301F has not been characterized in the scientific literature and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
T224K missense loss of function FANCL T224K lies within the UBC-RWD region of the Fancl protein (UniProt.org). T224K results in Fancd2 binding similar to wild-type Fancl, but decreased Fancd2 ubiquitination in an in vitro assay, and decreased ability to rescue G2 cell cycle arrest in FANCL-null cells in culture (PMID: 32420600).
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.
T367I missense unknown FANCL T367I does not lie within any known functional domains of the Fancl protein (UniProt.org). T367I has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Fancl protein function is unknown (PubMed, Feb 2024).
T367Nfs*13 frameshift loss of function - predicted FANCL T367Nfs*13 indicates a shift in the reading frame starting at amino acid 367 and terminating 13 residues downstream, resulting in premature truncation of the functional protein and extension of the 375aa Fancl protein length by 5 amino acids (UniProt.org). T367Nfs*13 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.
V287G missense unknown FANCL V287G lies within the UBC-RWD region of the Fancl protein (UniProt.org). V287G results in improper folding of Fancl protein in an in vitro assay (PMID: 32420600), but has not been fully biochemically characterized, and therefore, its effect on Fancl protein function is unknown.