| Type | Description |
|---|---|
| Definition | FA complementation group L |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:29:00 | Characterization of FANCL variants observed in patient cancer cells. | 32420600 |
| 2017-09-30 11:26:00 | A novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene identified in a Chinese patient with Fanconi anemia. | 28419882 |
| 2016-06-28 10:56:00 | Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin. | 26385482 |
| 2016-01-16 12:11:00 | Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association | 25754594 |
| 2014-04-05 13:15:00 | a signal transduction pathway involved in self-renewal and survival of hematopoietic stem cells also functions to stabilize FANCL and suggesting that FANCL participates directly in support of stem cell function. | 23783032 |
| Type | IDs |
|---|---|
| Synonymous | FAAP43, PHF9, POG |
| Gene |
UniProtKB-ID:
FANCL_HUMAN
UniprotKB:
Q9NW38
UniParc:
UPI0000D4A2D4,
UPI000013C98C
EMBL:
AC007250,
BC037570,
BC009042,
AK001197,
BC054517
Ensembl:
ENSG00000115392
KO:
hsa:55120
|
| Nucleutide sequences |
EMBL-CDS:
BAA91548.1,
AAY15020.1,
AAH09042.1,
AAH54517.1
Ensembl_TRS:
ENST00000402135,
ENST00000233741
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000233741,
ENSP00000385021
RefSeq:
XP_011531246.1,
NP_001108108.1,
NP_001361544.1,
XP_011531244.1,
XP_016859904.1,
XP_005264452.1,
NP_060532.2,
XP_011531241.1,
XP_011531243.1,
XP_011531242.1,
XP_011531247.1,
XP_016859905.1
|
| Others |
UniRef100:
UniRef100_Q9NW38
UniRef90:
UniRef90_Q9NW38
UniRef50:
UniRef50_Q9NW38
UniGene:
Hs.631890
CCDS:
CCDS46294.1,
CCDS1860.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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