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Gene Symbol FANCA
Synonyms FA | FA-H | FA1 | FAA | FACA | FAH | FANCH
Gene Description FANCA, FA complementation group A, is a member of the Fanconi anemia (FA) nuclear complex, which plays a role in DNA repair (PMID: 11673408, PMID: 12509764, PMID: 30057198), and is required for nuclear localization of the FA core complex (PMID: 32002546). Germline FANCA mutations are associated with Fanconi anemia, which involves predisposition to various cancers (PMID: 12509764, PMID: 32235514, PMID: 29098742), including acute myeloid leukemia (PMID: 25455269) and ovarian high-grade serous carcinoma (PMID: 32019284), and loss of FANCA has been reported in prostate cancer (PMID: 31931827).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2175 16 16q24.3 NM_000135 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1097V missense unknown FANCA A1097V does not lie within any known functional domains of the Fanca protein (UniProt.org). A1097V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A181V missense unknown FANCA A181V does not lie within any known functional domains of the Fanca protein (UniProt.org). A181V has been identified in sequencing studies (PMID: 24728327, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A403V missense unknown FANCA A403V does not lie within any known functional domains of the Fanca protein (UniProt.org). A403V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A40E missense unknown FANCA A40E does not lie within any known functional domains of the Fanca protein (UniProt.org). A40E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A412V missense unknown FANCA A412V does not lie within any known functional domains of the Fanca protein (UniProt.org). A412V has been identified in the scientific literature (PMID: 14695169, PMID: 28690523, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A444V missense unknown FANCA A444V does not lie within any known functional domains of the Fanca protein (UniProt.org). A444V has been identified in sequencing studies (PMID: 24390348, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A47P missense unknown FANCA A47P does not lie within any known functional domains of the Fanca protein (UniProt.org). A47P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A586T missense unknown FANCA A586T does not lie within any known functional domains of the Fanca protein (UniProt.org). A586T has not been characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
A733P missense loss of function FANCA A733P does not lie within any known functional domains of the Fanca protein (UniProt.org). A733P confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
A786V missense unknown FANCA A786V does not lie within any known functional domains of the Fanca protein (UniProt.org). A786V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
A980G missense unknown FANCA A980G does not lie within any known functional domains of the Fanca protein (UniProt.org). A980G has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
amp none no effect FANCA amplification indicates an increased number of copies of the FANCA gene. However, the mechanism causing the increase is unspecified.
C422Y missense unknown FANCA C422Y does not lie within any known functional domains of the Fanca protein (UniProt.org). C422Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
C625S missense unknown FANCA C625S does not lie within any known functional domains of the Fanca protein (UniProt.org). C625S has been identified in the scientific literature (PMID: 23021409, PMID: 21273304, PMID: 28717660), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
D1359Y missense loss of function FANCA D1359Y does not lie within any known functional domains of the Fanca protein (UniProt.org). D1359Y confers a loss of function to the Fanca protein, as indicated by decreased Fancd2 and Fanci monoubiquitination, reduced Fancd2 foci formation upon MMC treatment in cultured cells (PMID: 28864460), decreased survival upon MMC treatment in FANCA-deficient cells, and decreased interaction with Fancc and Fancf in culture (PMID: 12444097).
D598N missense loss of function FANCA D598N does not lie within any known functional domains of the Fanca protein (UniProt.org). D598N demonstrates Fancc and Fancf binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), however, confers a loss of function to the Fanca protein as demonstrated by reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
D694Y missense unknown FANCA D694Y does not lie within any known functional domains of the Fanca protein (UniProt.org). D694Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
D931H missense unknown FANCA D931H does not lie within any known functional domains of the Fanca protein (UniProt.org). D931H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
D944A missense loss of function FANCA D944A does not lie within any known functional domains of the Fanca protein (UniProt.org). D944A confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
D953E missense unknown FANCA D953E does not lie within any known functional domains of the Fanca protein (UniProt.org). D953E results in nuclear localization and Fanca expression similar to wild-type Fanca but does not fully complement survival after mitomycin C treatment in FANCA-deficient cells in culture (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown.
del deletion loss of function FANCA del indicates a deletion of the FANCA gene.
E1015* nonsense loss of function - predicted FANCA E1015* results in a premature truncation of the Fanca protein at amino acid 1015 of 1455 (UniProt.org). E1015* has not been characterized, however, due to the effects of other truncation mutations downstream of E1015 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
E1015K missense unknown FANCA E1015K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1015K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E1115K missense unknown FANCA E1115K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1115K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E1214Q missense unknown FANCA E1214Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E1214Q has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E1239_R1243del deletion loss of function FANCA E1239_R1243del results in the deletion of five amino acids in the Fanca protein from amino acids 1239 to 1243 (UniProt.org). E1239_R1243del confers a loss of function to the Fanca protein as demonstrated by decreased Fanca phosphorylation, reduced interaction with Fancc and Fancf, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
E1252K missense unknown FANCA E1252K does not lie within any known functional domains of the Fanca protein (UniProt.org). E1252K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E1351Q missense unknown FANCA E1351Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E1351Q has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E1394Gfs*31 frameshift unknown FANCA E1394Gfs*31 indicates a shift in the reading frame starting at amino acid 1394 and terminating 31 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). E1394Gfs*31 results in decreased Fancd2 ubiquitination and nuclear foci when in combination with FANCA R1400H (PMID: 33172906), but has not been individually characterized and therefore, its effect on Fanca protein function is unknown.
E288* nonsense loss of function - predicted FANCA E288* results in a premature truncation of the Fanca protein at amino acid 288 of 1455 (UniProt.org). E288* has not been characterized however, due to the effects of other truncation mutations downstream of E288 (PMID: 24349332, PMID: 30057198), is predicted to result in a loss of Fanca protein function.
E38K missense unknown FANCA E38K does not lie within any known functional domains of the Fanca protein (UniProt.org). E38K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
E526Q missense unknown FANCA E526Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E526Q has been identified in sequencing studies (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E542A missense unknown FANCA E542A does not lie within any known functional domains of the Fanca protein (UniProt.org). E542A has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E682Q missense unknown FANCA E682Q does not lie within any known functional domains of the Fanca protein (UniProt.org). E682Q has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
E698K missense unknown FANCA E698K does not lie within any known functional domains of the Fanca protein (UniProt.org). E698K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
E936G missense loss of function FANCA E936G does not lie within any known functional domains of the Fanca protein (UniProt.org). E936G confers a loss of function to Fanca, as indicated by failure to complement survival after mitomycin treatment in FANCA-deficient cells and decreased Fancd2 ubiquitylation in culture (PMID: 28215707).
E936K missense unknown FANCA E936K does not lie within any known functional domains of the Fanca protein (UniProt.org). E936K demonstrates the ability to complement survival after mitomycin-C treatment in FANCA-deficient cells similar to wild-type Fanca, increased binding to Hsp90 and Hsp70, but moderately decreases Fancd2 ubiquitylation in culture (PMID: 28215707), and therefore, its effect on Fanca protein function is unknown.
E966K missense unknown FANCA E966K does not lie within any known functional domains of the Fanca protein (UniProt.org). E966K results in nuclear localization similar to wild-type Fanca in culture (PMID: 16397136), but has not been fully biochemically characterized and therefore, its effect on Fanca protein function is unknown.
F1135del deletion loss of function FANCA F1135del results in the deletion of an amino acid of the Fanca protein at amino acid 1135 (UniProt.org). F1135del confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
F1261L missense unknown FANCA F1261L does not lie within any known functional domains of the Fanca protein (UniProt.org). F1261L has been identified in sequencing studies (PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Dec 2022).
F1262L missense unknown FANCA F1262L does not lie within any known functional domains of the Fanca protein (UniProt.org). F1262L demonstrates Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), however, results in impaired Fanca nuclear localization in cultured cells (PMID: 32002546), and therefore, its effect on Fanca protein function is unknown.
F1263del deletion loss of function FANCA F1263del results in the deletion of an amino acid of the Fanca protein at amino acid 1263 (UniProt.org). F1263del results in decreased interaction with Fancc and Fancf (PMID: 12444097), failure to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells (PMID: 12444097, PMID: 31586946), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
F320L missense unknown FANCA F320L does not lie within any known functional domains of the Fanca protein (UniProt.org). F320L has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
F476L missense unknown FANCA F476L does not lie within any known functional domains of the Fanca protein (UniProt.org). F476L has been identified in sequencing studies (PMID: 22810696, PMID: 33754015), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
G1039D missense unknown FANCA G1039D does not lie within any known functional domains of the Fanca protein (UniProt.org). G1039D has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
G115R missense unknown FANCA G115R does not lie within any known functional domains of the Fanca protein (UniProt.org). G115R has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
G501S missense unknown FANCA G501S does not lie within any known functional domains of the Fanca protein (UniProt.org). G501S is a common Fanca polymorphism (PMID: 19012493, PMID: 14749703, PMID: 25885250), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
G804S missense unknown FANCA G804S does not lie within any known functional domains of the Fanca protein (UniProt.org). G804S has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
G809D missense unknown FANCA G809D does not lie within any known functional domains of the Fanca protein (UniProt.org). G809D has been identified in the scientific literature (PMID: 19012493, PMID: 14695169), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
H1110P missense loss of function FANCA H1110P does not lie within any known functional domains of the Fanca protein (UniProt.org). H1110P confers a loss of function to the Fanca protein as demonstrated by defective nuclear accumulation, inability to bind Fancc, and sensitization of cells to a mitomycin C induced cell death (PMID: 10210316).
H1355L missense unknown FANCA H1355L does not lie within any known functional domains of the Fanca protein (UniProt.org). H1355L has been identified in sequencing studies (PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
H1417D missense no effect - predicted FANCA H1417D does not lie within any known functional domains of the Fanca protein (UniProt.org). H1417D demonstrates nuclear localization, Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), and therefore, is predicted to have no effect on Fanca protein function.
H492R missense loss of function FANCA H492R does not lie within any known functional domains of the Fanca protein (UniProt.org). H492R confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
H913P missense loss of function - predicted FANCA H913P does not lie within any known functional domains of the Fanca protein (UniProt.org). H913P results in cytoplasmic localization and intermediate mitochondrial activity as indicated by altered electron transport and ATP/AMP ratio in cultured cells (PMID: 29269525), and therefore, is predicted to result in a loss of Fanca protein function.
I1300M missense unknown FANCA I1300M does not lie within any known functional domains of the Fanca protein (UniProt.org). I1300M has been identified in sequencing studies (PMID: 22037554, PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
inact mut unknown loss of function FANCA inact mut indicates that this variant results in a loss of function of the Fanca protein. However, the specific amino acid change has not been identified.
K1283R missense unknown FANCA K1283R does not lie within any known functional domains of the Fanca protein (UniProt.org). K1283R has been identified in the scientific literature (PMID: 30709382), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
K143N missense unknown FANCA K143N does not lie within any known functional domains of the Fanca protein (UniProt.org). K143N has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
K453N missense unknown FANCA K453N does not lie within any known functional domains of the Fanca protein (UniProt.org). K453N has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
K522R missense unknown FANCA K522R does not lie within any known functional domains of the Fanca protein (UniProt.org). K522R demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture, however, the genomic change (c.1565A>G) leads to skipping of exon 16 which is predicted to result in an in-frame deletion of 32 amino acids of the Fanca protein in a Fanconi anemia patient sample (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown.
L1075P missense unknown FANCA L1075P lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1075P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L1082F missense unknown FANCA L1082F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1082F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L1082P missense loss of function - predicted FANCA L1082P lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). L1082P results in impaired Fanca nuclear localization in cultured cells (PMID: 32002546), and therefore, is predicted to lead to a loss of Fanca protein function.
L1083del deletion loss of function FANCA L1083del results in the deletion of an amino acid of the Fanca protein at amino acid 1083 (UniProt.org). L1083del confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
L1181P missense loss of function FANCA L1181P does not lie within any known functional domains of the Fanca protein (UniProt.org). L1181P confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
L1211I missense unknown FANCA L1211I does not lie within any known functional domains of the Fanca protein (UniProt.org). L1211I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L1249V missense unknown FANCA L1249V does not lie within any known functional domains of the Fanca protein (UniProt.org). L1249V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L1256Hfs*11 frameshift loss of function FANCA L1256Hfs*11 indicates a shift in the reading frame starting at amino acid 1256 and terminating 11 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). L1256Hfs*11 confers a loss of function to the Fanca protein as indicated by a loss of Fanca protein expression and both decreased Fancd2 ubiquitination and nuclear foci (PMID: 33172906).
L1305F missense loss of function FANCA L1305F does not lie within any known functional domains of the Fanca protein (UniProt.org). L1305F fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946).
L1320del deletion unknown FANCA L1320del results in the deletion of an amino acid in the Fanca protein at amino acid 1320 (UniProt.org). L1320del has been identified in sequencing studies (PMID: 27748766, PMID: 26487540), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
L1401V missense unknown FANCA L1401V does not lie within any known functional domains of the Fanca protein (UniProt.org). L1401V has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L185I missense unknown FANCA L185I does not lie within any known functional domains of the Fanca protein (UniProt.org). L185I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L210R missense loss of function FANCA L210R does not lie within any known functional domains of the Fanca protein (UniProt.org). L210R results in a loss of binding of Fanca to Fancg and the Fancb/Fancl complex in cell culture (PMID: 16720839).
L274P missense loss of function FANCA L274P does not lie within any known functional domains of the Fanca protein (UniProt.org). L274P results in a loss of Fanca interaction with the Fancb/Fancl complex and leads to defective nuclear localization of Fanca in cell culture (PMID: 16720839).
L278R missense loss of function FANCA L278R does not lie within any known functional domains of the Fanca protein (UniProt.org). L278R confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
L424V missense no effect - predicted FANCA L424V does not lie within any known functional domains of the Fanca protein (UniProt.org). L424V demonstrates Fancd2 monoubiquitination and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 30031030), and therefore, is predicted to have no effect on Fanca protein function.
L51M missense unknown FANCA L51M does not lie within any known functional domains of the Fanca protein (UniProt.org). L51M has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L72Cfs*6 frameshift loss of function - predicted FANCA L72Cfs*6 indicates a shift in the reading frame starting at amino acid 72 and terminating 6 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Due to the loss of a majority of the protein (UniProt.org), and loss of regions that interact with Brca1 (PMID: 12354784) and Faap20 (PMID: 22343915), L72Cfs*6 is predicted to lead to a loss of Fanca protein function.
L72fs frameshift loss of function - predicted FANCA L72fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 72 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a majority of the protein (UniProt.org), and loss of interaction with Brca1 (PMID: 12354784) and Faap20 (PMID: 22343915), L72fs is predicted to lead to a loss of Fanca protein function.
L784Ffs*10 frameshift loss of function - predicted FANCA L784Ffs*10 indicates a shift in the reading frame starting at amino acid 784 and terminating 10 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). L784Ffs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of L784 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
L817P missense loss of function FANCA L817P does not lie within any known functional domains of the Fanca protein (UniProt.org). L817P confers a loss of function to Fanca, as indicated by cytoplasmic and nuclear localization, decreased interaction with Fancc and Fancf, decreased Fancd2 ubiquination, and failure to fully complement survival after MMC treatment in FANCA-deficient cells in culture (PMID: 12444097).
L845P missense loss of function FANCA L845P does not lie within any known functional domains of the Fanca protein (UniProt.org). L845P confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc and Fancf, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
L864I missense unknown FANCA L864I does not lie within any known functional domains of the Fanca protein (UniProt.org). L864I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L908P missense unknown FANCA L908P does not lie within any known functional domains of the Fanca protein (UniProt.org). L908P has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
L946P missense loss of function FANCA L946P does not lie within any known functional domains of the Fanca protein (UniProt.org). L946P confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
loss unknown loss of function FANCA loss indicates loss of the FANCA gene, mRNA, and protein.
M1024fs frameshift loss of function - predicted FANCA M1024fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 1024 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). M1024fs has not been characterized, however, due to the effects of other truncation mutations downstream of M1024 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
M1024Ifs*4 frameshift loss of function - predicted FANCA M1024Ifs*4 indicates a shift in the reading frame starting at amino acid 1024 and terminating 4 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). M1024Ifs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of M1024 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
M1077I missense unknown FANCA M1077I lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). M1077I has been identified in sequencing studies (PMID: 22820256), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
M1360I missense loss of function FANCA M1360I does not lie within any known functional domains of the Fanca protein (UniProt.org). M1360I confers a loss of function to the Fanca protein as indicated by loss of nuclear localization (PMID: 29098742, PMID: 32002546), and failure to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
M160I missense unknown FANCA M160I does not lie within any known functional domains of the Fanca protein (UniProt.org). M160I has been identified in sequencing studies (PMID: 20668451, PMID: 32699558), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
M1? unknown loss of function FANCA M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Fanca protein. M1? confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
M717I missense unknown FANCA M717I does not lie within any known functional domains of the Fanca protein (UniProt.org). M717I has been identified in the scientific literature (PMID: 10094191, PMID: 28423517, PMID: 27882345), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
mutant unknown unknown FANCA mutant indicates an unspecified mutation in the FANCA gene.
N1003H missense unknown FANCA N1003H does not lie within any known functional domains of the Fanca protein (UniProt.org). N1003H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P1175L missense unknown FANCA P1175L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1175L has been identified in sequencing studies (PMID: 29338072, PMID: 25231023), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P1222L missense unknown FANCA P1222L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1222L has been identified in sequencing studies (PMID: 28767289), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P1324L missense loss of function FANCA P1324L does not lie within any known functional domains of the Fanca protein (UniProt.org). P1324L confers a loss of function to Fanca, as indicated by cytoplasmic localization, decreased interaction with Fancc and Fancf, decreased Fancd2 ubiquination, and failure to fully complement survival after MMC treatment in FANCA-deficient cells in culture (PMID: 12444097).
P496S missense unknown FANCA P496S does not lie within any known functional domains of the Fanca protein (UniProt.org). P496S has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P497L missense unknown FANCA P497L does not lie within any known functional domains of the Fanca protein (UniProt.org). P497L has not been characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P497S missense loss of function FANCA P497S does not lie within any known functional domains of the Fanca protein (UniProt.org). P497S confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
P500A missense unknown FANCA P500A does not lie within any known functional domains of the Fanca protein (UniProt.org). P500A has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P615fs frameshift loss of function - predicted FANCA P615fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 615 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the region that interacts with Brca1 (PMID: 12354784) and Faap20 (PMID: 22343915), P615fs is predicted to lead to a loss of Fanca protein function.
P643A missense unknown FANCA P643A does not lie within any known functional domains of the Fanca protein (UniProt.org). H1355L has been identified in the scientific literature (PMID: 28690523, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
P774R missense unknown FANCA P774R does not lie within any known functional domains of the Fanca protein (UniProt.org). P774R has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
P808S missense unknown FANCA P808S does not lie within any known functional domains of the Fanca protein (UniProt.org). P808S has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
Q1099H missense no effect FANCA Q1099H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q1099H demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture (PMID: 29098742).
Q1128E missense loss of function FANCA Q1128E does not lie within any known functional domains of the Fanca protein (UniProt.org). Q1128E demonstrates Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), however, confers a loss of function to the Fanca protein as demonstrated by defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
Q1307Sfs*6 frameshift unknown FANCA Q1307Sfs*6 indicates a shift in the reading frame starting at amino acid 1307 and terminating 6 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q1307Sfs*6 has been identified in the scientific literature (PMID: 36181052), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
Q168E missense unknown FANCA Q168E does not lie within any known functional domains of the Fanca protein (UniProt.org). Q168E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
Q174H missense unknown FANCA Q174H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q174H demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture, however, the genomic change (c.522G>C) leads to skipping of exon 5 which is predicted to result in an in-frame deletion of 32 amino acids of the Fanca protein in Fanconi anemia patient sample (PMID: 29098742), and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
Q226H missense unknown FANCA Q226H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q226H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
Q286Rfs*10 frameshift loss of function - predicted FANCA Q286Rfs*10 indicates a shift in the reading frame starting at amino acid 286 and terminating 10 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Q286Rfs*10 has not been characterized, however, due to the effects of other truncation mutations downstream of Q286 (PMID: 24349332, PMID: 30057198), is predicted to lead to a loss of Fanca protein function.
Q326* nonsense loss of function - predicted FANCA Q326* results in a premature truncation of the Fanca protein at amino acid 326 of 1455 (UniProt.org). Q326* has not been characterized however, due to the effects of other truncation mutations downstream of Q326 (PMID: 24349332, PMID: 30057198), is predicted to result in a loss of Fanca protein function.
Q343* nonsense loss of function - predicted FANCA Q343* results in a premature truncation of the Fanca protein at amino acid 343 of 1455 (UniProt.org). Q343* has not been characterized however, due to the effects of other truncation mutations downstream of Q343 (PMID: 24349332, PMID: 30057198), is predicted to result in a loss of Fanca protein function.
Q382E missense unknown FANCA Q382E does not lie within any known functional domains of the Fanca protein (UniProt.org). Q382E has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
Q382H missense unknown FANCA Q382H does not lie within any known functional domains of the Fanca protein (UniProt.org). Q382H has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
Q436R missense loss of function FANCA Q436R does not lie within any known functional domains of the Fanca protein (UniProt.org). Q436R confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
Q772* nonsense loss of function FANCA Q772* results in a premature truncation of the Fanca protein at amino acid 772 of 1455 (UniProt.org). Q772* confers a loss of function to the Fanca protein as demonstrated by reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
Q772fs frameshift loss of function - predicted FANCA Q772fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 772 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the region that interacts with Brca1 (PMID: 12354784) and Faap20 (PMID: 22343915), Q772fs is predicted to lead to a loss of Fanca protein function.
Q772Rfs*5 frameshift loss of function - predicted FANCA Q772Rfs*5 indicates a shift in the reading frame starting at amino acid 772 and terminating 5 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). Due to the loss of the region that interacts with Brca1 (PMID: 12354784) and Faap20 (PMID: 22343915), Q772Rfs*5 is predicted to lead to a loss of Fanca protein function.
Q869* nonsense loss of function - predicted FANCA Q869* results in a premature truncation of the Fanca protein at amino acid 869 of 1455 (UniProt.org). Q869* has not been characterized, however, due to the effects of other truncation mutations downstream of Q869 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
Q869_F870del deletion loss of function FANCA Q869_F870del (also reported as F868_Q869del) results in the deletion of two amino acids of the Fanca protein from amino acids 869 to 870 (UniProt.org). Q869_F870del (reported as F868_Q869del) confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
Q99* nonsense loss of function FANCA Q99* results in a premature truncation of the Fanca protein at amino acid 99 of 1455 (UniProt.org). Q99* fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946).
Q993* nonsense loss of function - predicted FANCA Q993* results in a premature truncation of the Fanca protein at amino acid 993 of 1455 (UniProt.org). Q993* has not been characterized, however, due to the effects of other truncation mutations downstream of Q993 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
R1011H missense unknown FANCA R1011H does not lie within any known functional domains of the Fanca protein (UniProt.org). R1011H has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1053C missense unknown FANCA R1053C does not lie within any known functional domains of the Fanca protein (UniProt.org). R1053C has been identified in sequencing studies (PMID: 28678401), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1054* nonsense loss of function - predicted FANCA R1054* results in a premature truncation of the Fanca protein at amino acid 1054 of 1455 (UniProt.org). R1054* has not been characterized, however, due to the effects of other truncation mutations downstream of R1054 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
R1055G missense unknown FANCA R1055G does not lie within any known functional domains of the Fanca protein (UniProt.org). R1055G has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1055L missense loss of function FANCA R1055L does not lie within any known functional domains of the Fanca protein (UniProt.org). R1055L confers a loss of function to the Fanca protein as demonstrated by decreased interaction with Fancc and Fancf, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
R1055W missense loss of function FANCA R1055W does not lie within any known functional domains of the Fanca protein (UniProt.org). R1055W confers a loss of function to the Fanca protein as demonstrated by reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and loss of nuclear localization in cultured cells (PMID: 32002546).
R1084C missense unknown FANCA R1084C lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). R1084C has been identified in sequencing studies (PMID: 30050716, PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1117G missense loss of function FANCA R1117G does not lie within any known functional domains of the Fanca protein (UniProt.org). R1117G confers a loss of function the Fanca protein as demonstrated by defective nuclear accumulation, sensitization of cells to mitomycin C-induced cell death in culture (PMID: 10210316), reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
R1186K missense unknown FANCA R1186K does not lie within any known functional domains of the Fanca protein (UniProt.org). R1186K has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1186M missense unknown FANCA R1186M does not lie within any known functional domains of the Fanca protein (UniProt.org). R1186M has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1204W missense unknown FANCA R1204W does not lie within any known functional domains of the Fanca protein (UniProt.org). R1204W has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R1400H missense loss of function FANCA R1400H does not lie within any known functional domains of the Fanca protein (UniProt.org). R1400H confers a loss of function on Fanca as indicated by increased cytoplasmic localization, reduced Fanca protein level, and a mild decrease in Fancd2 ubiquitination and foci formation, and increase in sensitivity to DNA cross-linking agents in cultured cells (PMID: 33172906).
R1425C missense unknown FANCA R1425C does not lie within any known functional domains of the Fanca protein (UniProt.org). R1425C has been identified in sequencing studies (PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
R163H missense unknown FANCA R163H does not lie within any known functional domains of the Fanca protein (UniProt.org). R163H has been identified in sequencing studies (PMID: 28678401, PMID: 27334835, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R435C missense loss of function FANCA R435C does not lie within any known functional domains of the Fanca protein (UniProt.org). R435C confers a loss of function to the Fanca protein as demonstrated by impaired nuclear localization, decreased Fanca phosphorylation, reduced interaction with Fancc and Fancf, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
R435H missense loss of function FANCA R435H does not lie within any known functional domains of the Fanca protein (UniProt.org). R435H confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
R435L missense loss of function FANCA R435L does not lie within any known functional domains of the Fanca protein (UniProt.org). R435L confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
R52* nonsense loss of function - predicted FANCA R52* results in a premature truncation of the Fanca protein at amino acid 52 of 1455 (UniProt.org). R52* has not been characterized, however, due to the effects of other truncation mutations downstream of R52 (PMID: 24349332, PMID: 30057198, PMID: 31586946), is predicted to lead to a loss of Fanca protein function.
R52L missense unknown FANCA R52L does not lie within any known functional domains of the Fanca protein (UniProt.org). R52L has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R52P missense unknown FANCA R52P does not lie within any known functional domains of the Fanca protein (UniProt.org). R52P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R683I missense unknown FANCA R683I does not lie within any known functional domains of the Fanca protein (UniProt.org). R683I has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R685K missense unknown FANCA R685K does not lie within any known functional domains of the Fanca protein (UniProt.org). R685K has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
R756C missense loss of function - predicted FANCA R756C does not lie within any known functional domains of the Fanca protein (UniProt.org). R756C is associated with weak Fanca expression and nuclear localization, and does not fully complement cell survival after mitomycin C treatment in FANCA-deficient cells in culture (PMID: 29098742), and therefore, is predicted to result in a loss of Fanca protein function
R880Q missense unknown FANCA R880Q does not lie within any known functional domains of the Fanca protein (UniProt.org). The functional effect of R880Q is conflicting, as it results in increased cytoplasmic localization and decreased ability to complement survival after mitomycin C (MMC) treatment in culture in one study (PMID: 16397136), but demonstrates the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in another study, and leads to increased binding to Hsp90 and Hsp70 and moderately decreased Fancd2 ubiquitylation in culture (PMID: 28215707).
R917* nonsense loss of function - predicted FANCA R917* results in a premature truncation of the Fanca protein at amino acid 917 of 1455 (UniProt.org). R917* has not been characterized, however, due to the effects of other truncation mutations downstream of R917 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
R951Q missense loss of function - predicted FANCA R951Q does not lie within any known functional domains of the Fanca protein (UniProt.org). R951Q results in cytoplasmic localization, and intermediate mitochondrial activity as indicated by altered electron transport and ATP/AMP ratio in cultured cells (PMID: 29269525), and therefore, is predicted to result in a loss of Fanca protein function.
R951W missense loss of function FANCA R951W does not lie within any known functional domains of the Fanca protein (UniProt.org). R951W confers a loss of function to the Fanca protein as demonstrated by reduced ability to activate the downstream DNA damage repair endonuclease Fen1 in an in vitro assay (PMID: 24349332), and defective DNA double-strand break repair due to impaired ability to catalyze single-strand annealing and strand exchange activity in cultured cells (PMID: 30057198).
S1088F missense unknown FANCA S1088F lies within the leucine zipper domain of the Fanca protein (PMID: 22194614). The functional effect of S1088F is conflicting as it results in decreased Fancd2 and Fanci monoubiquitination and decreased DNA repair in response to mitomycin C treatment in culture in one study (PMID: 28864460), but restores Fancd2 monoubiquitination, confers resistance to mitomycin C-induced cell death and G2/M cell cycle block to levels similar of wild-type protein in FANCA-null cells in another study (PMID: 31586946).
S1094G missense unknown FANCA S1094G does not lie within any known functional domains of the Fanca protein (UniProt.org). S1094G has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
S1264Y missense unknown FANCA S1264Y does not lie within any known functional domains of the Fanca protein (UniProt.org). S1264Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
S1416L missense unknown FANCA S1416L does not lie within any known functional domains of the Fanca protein (UniProt.org). S1416L has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
S367I missense loss of function FANCA S367I does not lie within any known functional domains of the Fanca protein (UniProt.org). S367I fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946).
S421N missense unknown FANCA S421N does not lie within any known functional domains of the Fanca protein (UniProt.org). S421N has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
S455F missense unknown FANCA S455F does not lie within any known functional domains of the Fanca protein (UniProt.org). S455F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Jan 2023).
S46P missense unknown FANCA S46P does not lie within any known functional domains of the Fanca protein (UniProt.org). S46P has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
S545I missense unknown FANCA S545I does not lie within any known functional domains of the Fanca protein (UniProt.org). S545I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
S616Y missense unknown FANCA S616Y does not lie within any known functional domains of the Fanca protein (UniProt.org). S616Y has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2022).
S734F missense unknown FANCA S734F does not lie within any known functional domains of the Fanca protein (UniProt.org). S734F has been identified in sequencing studies (PMID: 24265153), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
S858R missense loss of function - predicted FANCA S858R does not lie within any known functional domains of the Fanca protein (UniProt.org). S858R has not been fully biochemically characterized, but is predicted to result in a loss of Fanca function due to association with decreased Fanca expression and defective monoubiquitination of Fancd2 in cell culture (PMID: 12955722).
S892F missense unknown FANCA S892F does not lie within any known functional domains of the Fanca protein (UniProt.org). S892F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
T1131A missense unknown FANCA T1131A does not lie within any known functional domains of the Fanca protein (UniProt.org). the functional effect of T1131A is conflicting as it demonstrates nuclear localization, Fancc binding, Fancd2 monoubiquitination, and complementation of cellular sensitivity to mitomycin C similar to wild-type Fanca protein in culture (PMID: 12444097), but in another study, results in impaired Fancd2 monoubiquitination (PMID: 28864460), and therefore, its effect on Fanca protein function is unknown.
T1161M missense unknown FANCA T1161M does not lie within any known functional domains of the Fanca protein (UniProt.org). T1161M has been identified in the scientific literature (PMID: 26674132, PMID: 26981779, PMID: 27489289), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
T1328A missense no effect FANCA T1328A does not lie within any known functional domains of the Fanca protein (UniProt.org). T1328A restores Fancd2 monoubiquitination, confers resistance to mitomycin C-induced cell death and G2/M cell cycle block to levels similar of wild-type protein in FANCA-null cells in culture (PMID: 31586946).
T256I missense unknown FANCA T256I does not lie within any known functional domains of the Fanca protein (UniProt.org). T256I has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
T266A missense unknown FANCA T266A does not lie within any known functional domains of the Fanca protein (UniProt.org). T266A has been identified in the scientific literature (PMID: 19012493, PMID: 28202063, PMID: 21984973), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
T266M missense unknown FANCA T266M does not lie within any known functional domains of the Fanca protein (UniProt.org). T266M has been identified in sequencing studies (PMID: 25266736, PMID: 32546565), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
T949N missense unknown FANCA T949N does not lie within any known functional domains of the Fanca protein (UniProt.org). T949N has been identified in sequencing studies (PMID: 27491810), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
V1112F missense unknown FANCA V1112F does not lie within any known functional domains of the Fanca protein (UniProt.org). V1112F has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
V1112G missense loss of function FANCA V1112G does not lie within any known functional domains of the Fanca protein (UniProt.org). V1112G fails to restore Fancd2 monoubiquitination and confer resistance to mitomycin C-induced cell death and G2/M cell cycle block in FANCA-null cells in culture (PMID: 31586946).
V1180L missense unknown FANCA V1180L does not lie within any known functional domains of the Fanca protein (UniProt.org). V1180L has not been characterized in the scientific literature and therefore, its effect on Fanca protein function is unknown (PubMed, Apr 2023).
V1418M missense no effect FANCA V1418M does not lie within any known functional domains of the Fanca protein (UniProt.org). V1418M demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture (PMID: 29098742).
V230I missense no effect FANCA V230I does not lie within any known functional domains of the Fanca protein (UniProt.org). V230I demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture (PMID: 29098742).
V372Afs*42 frameshift loss of function - predicted FANCA V372Afs*42 indicates a shift in the reading frame starting at amino acid 372 and terminating 42 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). V372Afs*42 has not been characterized, however, due to the effects of other truncation mutations downstream of V372 (PMID: 24349332, PMID: 30057198), is predicted to lead to a loss of Fanca protein function.
V372fs frameshift loss of function - predicted FANCA V372fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 372 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the disruption of the region that interacts with Brca1 (PMID: 12354784) and loss of the region that interacts with Faap20 (PMID: 22343915), V372fs is predicted to lead to a loss of Fanca protein function.
V378I missense loss of function FANCA V378I does not lie within any known functional domains of the Fanca protein (UniProt.org). V378I confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
V580M missense unknown FANCA V580M does not lie within any known functional domains of the Fanca protein (UniProt.org). V580M has been identified in sequencing studies (PMID: 29420467), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
V677M missense unknown FANCA V677M does not lie within any known functional domains of the Fanca protein (UniProt.org). V677M has been identified in sequencing studies (PMID: 28767289, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
V697I missense no effect FANCA V697I does not lie within any known functional domains of the Fanca protein (UniProt.org). V697I demonstrates expression, nuclear localization, and the ability to complement survival after MMC treatment in FANCA-deficient cells similar to wild-type Fanca protein in culture (PMID: 29098742).
V6D missense no effect FANCA V6D does not lie within any known functional domains of the Fanca protein (UniProt.org). V6D demonstrates FAC binding and nuclear localization similar to wild-type Fanca in cell culture (PMID: 9742112).
V888I missense unknown FANCA V888I does not lie within any known functional domains of the Fanca protein (UniProt.org). V888I has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Fanca protein function is unknown (PubMed, Feb 2023).
W1174del deletion loss of function FANCA W1174del results in the deletion of an amino acid of the Fanca protein at amino acid 1174 (UniProt.org). W1174del confers a loss of function to the Fanca protein as demonstrated by decreased Fanca phosphorylation, reduced interaction with Fancc, failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
W1224S missense loss of function FANCA W1224S does not lie within any known functional domains of the Fanca protein (UniProt.org). W1224S confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
W1302R missense loss of function FANCA W1302R does not lie within any known functional domains of the Fanca protein (UniProt.org). W1302R confers a loss of function to the Fanca protein as demonstrated by impaired nuclear localization (PMID: 12444097, PMID: 32002546), failure to restore Fancd2 monoubiquitination, and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 12444097).
W183A missense loss of function FANCA W183A lies within the hydrogen peroxide binding pocket of the Fanca protein (PMID: 11161829). W183A retains the ability to Fancg, but leads to an inability of Fanca to complement cellular sensitivity to mitomycin C in culture (PMID: 11161829).
W911fs frameshift loss of function - predicted FANCA W911fs results in a change in the amino acid sequence of the Fanca protein beginning at aa 911 of 1455, likely resulting in premature truncation of the functional protein (UniProt.org). W911fs has not been characterized, however, due to the effects of other truncation mutations downstream of W911 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
W911Sfs*11 frameshift loss of function - predicted FANCA W911Sfs*11 indicates a shift in the reading frame starting at amino acid 911 and terminating 11 residues downstream causing a premature truncation of the 1455 amino acid Fanca protein (UniProt.org). W911Sfs*11 has not been characterized, however, due to the effects of other truncation mutations downstream of W911 (PMID: 33172906), is predicted to lead to a loss of Fanca protein function.
W957G missense loss of function FANCA W957G does not lie within any known functional domains of the Fanca protein (UniProt.org). W957G confers a loss of function to the Fanca protein as demonstrated by failure to restore Fancd2 monoubiquitination and inability to complement cellular sensitivity to mitomycin C in culture (PMID: 30031030).
wild-type none no effect Wild-type FANCA indicates that no mutation has been detected within the FANCA gene.
Y448C missense loss of function FANCA Y448C does not lie within any known functional domains of the Fanca protein (UniProt.org). Y448C confers a loss of function to the Fanca protein as indicated by failure to localize to the nucleus and to complement survival of FANCA-null cells after MMC treatment in culture (PMID: 29098742).
Y510C missense loss of function FANCA Y510C does not lie within any known functional domains of the Fanca protein (UniProt.org). Y510C leads to defective nuclear localization of Fanca and results in a loss of Fanca interaction with the Fancb/Fancl complex and decreased binding to Fancg in cell culture (PMID: 16720839).