| Type | Description |
|---|---|
| Definition | RAB28, member RAS oncogene family |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:34:00 | Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. | 33396523 |
| 2020-04-18 10:40:00 | In conclusion, RAB28 variants are a rare cause of cone-rod dystrophy in various ethnic groups. These variants cause a comparable ophthalmological phenotype and furthermore could also be a cause of postaxial polydactyly. | 32084271 |
| 2018-05-05 12:06:00 | In summary, we identified a novel rare "likely pathogenic" variant--RAB28 c.68C>T--in a Korean patient with cone-rod dystrophy. | 28388261 |
| 2015-04-11 11:10:00 | Deleterious mutations in RAB28 result in a classic CRD phenotype and are an infrequent cause of CRD in the Spanish population. | 25356532 |
| 2013-09-21 12:37:00 | Autosomal-recessive cone-rod dystrophy is associated with RAB28 mutations. | 23746546 |
| Type | IDs |
|---|---|
| Synonymous | CORD18 |
| Gene |
UniProtKB-ID:
RAB28_HUMAN
UniprotKB:
P51157
UniParc:
UPI00004DF3AF,
UPI00000741FF,
UPI000006F171
EMBL:
X94703,
AC020729,
BC035054,
AF498955,
CX165950,
AC006226,
AC006445
Ensembl:
ENSG00000157869
KO:
hsa:9364
|
| Nucleutide sequences |
EMBL-CDS:
AAM21103.1,
CAA64364.1,
AAH35054.1
Ensembl_TRS:
ENST00000288723,
ENST00000330852,
ENST00000338176
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000340079,
ENSP00000328551,
ENSP00000288723
RefSeq:
NP_004240.2,
NP_001017979.1,
NP_001153073.1
|
| Others |
UniRef100:
UniRef100_P51157
UniRef90:
UniRef90_P51157
UniRef50:
UniRef50_P51157
UniGene:
Hs.656060
CCDS:
CCDS54741.1,
CCDS33961.1,
CCDS3409.1
|
| {{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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