| Type | Description |
|---|---|
| Definition | feline leukemia virus subgroup C cellular receptor 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 11:37:00 | FLVCR1 p.Tyr341Cys mutation was observed homozygously in seven Retinitis Pigmentosa affected Irish patients across four pedigrees. | 31884612 |
| 2019-05-18 11:45:00 | findings suggested that FLVCR1-AS1/miR-573/E2F3 axis was an important signaling pathway in mediating tumorigenesis and progression of NSCLC | 30309647 |
| 2019-04-13 11:44:00 | Mutations in FLVCR1 can present with the clinical picture of a non-syndromic autosomal recessive RP (in this case RP without PCA), RP with mild cerebellar signs, but also | 30656474 |
| 2019-04-13 11:26:00 | We describe clinical and retinal imaging features in the one of the largest cohorts of affected patients in the literature. Given the availability of genetic testing for this phenotype, testing for FLVCR1 mutations should be considered in pediatric and adult patients with sensory ataxia and retinitis pigmentosa. | 30444160 |
| 2019-03-16 12:50:00 | Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration. | 29192808 |
| Type | IDs |
|---|---|
| Synonymous | AXPC1, FLVCR, MFSD7B, PCA, PCARP, SLC49A1 |
| Gene |
UniProtKB-ID:
FLVC1_HUMAN,
B2RB38_HUMAN
UniprotKB:
Q9Y5Y0,
B2RB38
UniParc:
UPI000006CFF9,
UPI000006D3BB,
UPI0000171C66
EMBL:
CH471100,
AF118637,
DQ496107,
BC048312,
AK001419,
AK314481
Ensembl:
ENSG00000162769
KO:
hsa:28982
|
| Nucleutide sequences |
EMBL-CDS:
AAH48312.1,
ABF47096.1,
EAW93374.1,
AAD45243.1,
BAA91679.1,
BAG37085.1
Ensembl_TRS:
ENST00000366971
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000355938
RefSeq:
XP_011507749.1,
XP_011507748.1,
XP_011507750.1,
NP_054772.1
|
| Others |
UniRef100:
UniRef100_B2RB38,
UniRef100_Q9Y5Y0
UniRef90:
UniRef90_Q9Y5Y0
UniRef50:
UniRef50_Q9Y5Y0
UniGene:
Hs.7055
CCDS:
CCDS1510.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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