| Type | Description |
|---|---|
| Definition | FA complementation group B |
| Date | Results | Publications |
|---|---|---|
| 2018-09-22 10:59:00 | We identified a 9154 bp intragenic duplication in FANCB, covering the first coding exon 3 and the flanking regions. The duplicated allele gives rise to an aberrant transcript containing exon 3 duplication, predicted to introduce a stop codon in FANCB protein (p.A319*). | 29193904 |
| 2018-03-17 12:10:00 | Four single nucleotide polymorphisms were identified, three of which were located in untranslated regions of Fanconi anemia group B protein (FANCB) and predicted to be associated with normal function. | 29491055 |
| 2012-01-21 11:33:00 | Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. | 21910217 |
| 2010-09-20 12:17:00 | Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC. | 20332657 |
| 2010-08-09 11:46:00 | Elevated serum FA-2 was associated with bony metastases from breast cancer. | 20465790 |
| Type | IDs |
|---|---|
| Synonymous | FA2, FAAP90, FAAP95, FAB, FACB |
| Gene |
UniProtKB-ID:
FANCB_HUMAN,
A0A024RBW1_HUMAN
UniprotKB:
Q8NB91,
A0A024RBW1
UniParc:
UPI000006E70A
EMBL:
BC136560,
CH471074,
BC043596,
BC055411,
BC136558,
AK091383
Ensembl:
ENSG00000181544
KO:
hsa:2187
|
| Nucleutide sequences |
EMBL-CDS:
AAI36561.1,
AAH43596.1,
BAC03650.1,
AAI36559.1,
EAW98861.1,
AAH55411.1,
EAW98862.1,
EAW98863.1
Gene_ORFName:
hCG_1817747
Ensembl_TRS:
ENST00000398334,
ENST00000324138,
ENST00000650831
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000498215,
ENSP00000381378,
ENSP00000326819
RefSeq:
XP_011543772.1,
NP_001018123.1,
NP_001311091.1,
XP_016884845.1,
NP_689846.1,
XP_016884844.1
|
| Others |
UniRef100:
UniRef100_Q8NB91
UniRef90:
UniRef90_Q8NB91
UniRef50:
UniRef50_Q8NB91
UniGene:
Hs.554740
CCDS:
CCDS14161.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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