| Type | Description |
|---|---|
| Definition | interleukin 12 receptor subunit beta 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-05-02 12:02:00 | Novel nonsense IL-12Rbeta1 mutation associated with recurrent tuberculosis. | 31741236 |
| 2020-03-14 12:11:00 | Mutation analysis showed three previously reported mutations, two novel mutations in IL-12 R (beta1/beta2), and one previously reported mutation in IL-12 Mendelian Susceptibility to Mycobacterial Disease patients. | 31158284 |
| 2020-02-22 11:12:00 | IL12Rbeta1 deficiency must be regarded as a possible defect in patients suffering from unusual sensitivity to intracellular bacteria, which can be easily assessed primarily using flow cytometry | 31350062 |
| 2020-01-11 10:04:00 | Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease. | 30998751 |
| 2019-10-19 11:12:00 | The IL12RB1 locus is Alu-enriched and therefore prone to rearrangements at various positions. CNVs should be considered in the genetic diagnosis of IL-12Rbeta1 deficiency. | 29995221 |
| Type | IDs |
|---|---|
| Synonymous | CD212, IL-12R-BETA1, IL12RB, IMD30 |
| Gene |
UniProtKB-ID:
I12R1_HUMAN
UniprotKB:
P42701
UniParc:
UPI000002AB7A,
UPI00000502CE,
UPI0000140D4E
EMBL:
BC029121,
AJ297696,
AJ297697,
AY771996,
BC137406,
BC137404,
AJ297698,
AJ297700,
AJ297689,
AJ297693,
AJ297688,
AJ297690,
AJ297701,
CH471106,
AK290423,
AJ297692,
AC020904,
AJ297695,
AJ297699,
AJ297691,
U03187,
AJ297694
Ensembl:
ENSG00000096996
KO:
hsa:3594
|
| Nucleutide sequences |
EMBL-CDS:
EAW84656.1,
AAI37405.1,
AAH29121.1,
AAV28734.1,
AAA21340.1,
BAF83112.1,
CAC10446.1,
AAI37407.1
Ensembl_TRS:
ENST00000593993,
ENST00000600835,
ENST00000322153
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000472165,
ENSP00000314425,
ENSP00000470788
RefSeq:
XP_011526268.1,
NP_714912.1,
XP_011526276.1,
XP_011526272.1,
NP_001276953.1,
XP_011526277.1,
XP_016882251.1,
XP_011526278.1,
XP_006722804.2,
NP_001276952.1,
XP_011526273.1,
XP_011526269.1,
XP_011526279.1,
XP_011526274.1,
XP_011526270.1,
XP_011526275.1,
XP_011526271.1,
NP_005526.1
|
| Others |
UniRef100:
UniRef100_P42701
UniRef90:
UniRef90_P42701
UniRef50:
UniRef50_P42701
UniGene:
Hs.567294
CCDS:
CCDS32957.1,
CCDS54232.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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