| Type | Description |
|---|---|
| Definition | FA complementation group F |
| Date | Results | Publications |
|---|---|---|
| 2019-12-07 10:48:00 | A mutation in the FANCF gene in Iranian patients with Fanconi anemia. This new mutation correlates with a hematological problem (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected. | 31288759 |
| 2018-03-03 12:04:00 | LOH in FA genes appears to be a common feature of head and neck squamous cell carcinomas development seen here in 57% of patients and other mutation types may increase this mutation frequency. We suggest larger patient cohorts would be needed to test the observed association of LOH in FANCF and patient survival comprehensively | 28440438 |
| 2017-10-21 10:22:00 | we report three patients who illustrate the clinical variability within the FA-F group. This analysis suggests a more severe phenotype for those with the common c.484_485delCT mutation. | 27714961 |
| 2017-01-28 10:12:00 | CpG island methylation of FANCF gene promoter region is strongly associated with the susceptibility and clinicopathologic features of epithelial ovarian cancer. | 26507869 |
| 2016-10-08 10:15:00 | careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations | 26033879 |
| Type | IDs |
|---|---|
| Synonymous | FAF |
| Gene |
UniProtKB-ID:
FANCF_HUMAN,
A3KME0_HUMAN
UniprotKB:
Q9NPI8,
A3KME0
UniParc:
UPI000012A4CA
EMBL:
CH471064,
BC101807,
BC063038,
BC093867,
BC047028,
AY928335,
AK023153,
AF181995,
AK001716,
AF181994
Ensembl:
ENSG00000183161
KO:
hsa:2188
|
| Nucleutide sequences |
EMBL-CDS:
AAF26298.1,
BAB14433.1,
AAI01808.1,
AAX09677.1,
AAH93867.1,
AAH47028.1,
AAF26297.1,
AAH63038.1,
BAG50967.1,
EAW68319.1
Gene_ORFName:
hCG_1646608
Ensembl_TRS:
ENST00000327470
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000330875
RefSeq:
NP_073562.1
|
| Others |
UniRef100:
UniRef100_Q9NPI8
UniRef90:
UniRef90_Q9NPI8
UniRef50:
UniRef50_Q9NPI8
UniGene:
Hs.632151
CCDS:
CCDS7857.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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