Type | Description |
---|---|
Definition | MEFV innate immuity regulator, pyrin |
Date | Results | Publications |
---|---|---|
2021-04-13 10:12:00 | The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis. | 32398039 |
2021-04-13 10:11:00 | Optical coherence tomography-angiographic vascular densities in Familial Mediterranean Fever (FMF) Patients with M694V Mutations. | 32372681 |
2021-04-03 13:36:00 | Gene-Dose Effect of MEFV Gain-of-Function Mutations Determines ex vivo Neutrophil Activation in Familial Mediterranean Fever. | 32655537 |
2021-03-27 14:42:00 | MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database. | 32401353 |
2021-03-23 13:45:00 | Novel missense variations were identified in MEFV gene. | 32199921 |
Type | IDs |
---|---|
Synonymous | FMF, MEF, TRIM20 |
Gene |
UniProtKB-ID:
MEFV_HUMAN,
D2DTW2_HUMAN
UniprotKB:
O15553,
D2DTW2
UniParc:
UPI000204A90E,
UPI000004C0CA,
UPI0001BE98F5,
UPI00001D47CD
EMBL:
FJ785722,
AF111163,
Y14441,
CH471112,
AJ003147,
BC101537,
BC101511,
AF018080,
AF301151,
AF301150
Ensembl:
ENSG00000103313
KO:
hsa:4210
|
Nucleutide sequences |
EMBL-CDS:
EAW85382.1,
AAI01512.1,
AAD26152.1,
EAW85383.1,
AAI01538.1,
AAB70557.1,
CAA05906.1,
CAA74793.1,
AAK97223.1,
AAK97224.1,
ACV82590.1
Ensembl_TRS:
ENST00000219596,
ENST00000536379,
ENST00000541159
|
Protein sequencees |
Ensembl_PRO:
ENSP00000219596,
ENSP00000438711,
ENSP00000445079
RefSeq:
NP_000234.1,
XP_016878725.1,
NP_001185465.2
|
Others |
UniRef100:
UniRef100_O15553,
UniRef100_D2DTW2
UniRef90:
UniRef90_O15553-3,
UniRef90_O15553
UniRef50:
UniRef50_O15553-3,
UniRef50_O15553
UniGene:
Hs.632221
CCDS:
CCDS10498.1,
CCDS55981.1
|
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Refseq |
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