| Type | Description |
|---|---|
| Definition | adhesion G protein-coupled receptor V1 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:34:00 | Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. | 31792237 |
| 2019-07-06 11:11:00 | Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations | 29142287 |
| 2019-03-30 12:27:00 | The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients. | 29883260 |
| 2019-02-23 12:53:00 | GPR98 missense mutation is associated with usher syndrome type IIC. | 29890953 |
| 2018-10-27 11:14:00 | Data suggest that the ADGRV1 variation contributes to epilepsy with myoclonic seizures, although the inheritance pattern may be complex in many cases. In patients with 5q14.3 deletion and epilepsy, ADGRV1 haploinsufficiency likely contributes to seizure development. | 29266188 |
| Type | IDs |
|---|---|
| Synonymous | FEB4, GPR98, MASS1, USH2B, USH2C, VLGR1, VLGR1b |
| Gene |
UniProtKB-ID:
AGRV1_HUMAN
UniprotKB:
Q8WXG9
UniParc:
UPI0000E5AC73,
UPI0001FDB805,
UPI00002127A7,
UPI000020CC5D
EMBL:
AC074132,
AC099512,
AB014586,
AC094109,
AC093529,
AF435925,
AL136541,
AC093281,
AC034215,
AC027323,
AB075823,
AF055084
Ensembl:
ENSG00000164199
KO:
hsa:84059
|
| Nucleutide sequences |
EMBL-CDS:
CAB66476.2,
BAA31661.2,
BAB85529.1,
AAL30811.1,
AAD55586.1
Ensembl_TRS:
ENST00000405460
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000384582
RefSeq:
XP_016865456.1,
XP_016865463.1,
XP_016865461.1,
XP_016865458.1,
XP_016865460.1,
XP_016865457.1,
XP_016865455.1,
XP_016865453.1,
XP_016865454.1,
XP_016865462.1,
NP_115495.3,
XP_016865459.1,
XP_016865452.1
|
| Others |
UniRef100:
UniRef100_Q8WXG9
UniRef90:
UniRef90_Q8WXG9
UniRef50:
UniRef50_Q8VHN7
UniGene:
Hs.591777
CCDS:
CCDS47246.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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