| Type | Description |
|---|---|
| Definition | RFT1 homolog |
| Date | Results | Publications |
|---|---|---|
| 2019-04-06 11:48:00 | A novel RFT1 missense mutation was identified in a family with history of neonatal deaths due to severe respiratory insufficiency. | 30071302 |
| 2016-12-17 10:11:00 | showed that this patient was compound heterozygous for two mutations in the RFT1 gene: c.1325G>A (p.R442Q) and c.110G>T (p.R37L) | 26892341 |
| 2013-08-10 10:40:00 | Six patients with RFT1-CDG show sensorineural deafness as part of a severe neurological syndrome | 19856127 |
| 2013-04-27 11:14:00 | Identification of novel missense mutations in exon 12 of the RFT1 gene in adult siblings with congenital disorder of glycosylation (CDG) syndrome caused by RFT1 deficiency. | 23111317 |
| 2010-06-30 22:06:00 | Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | 20379614 |
| Type | IDs |
|---|---|
| Synonymous | CDG1N |
| Gene |
UniProtKB-ID:
RFT1_HUMAN
UniprotKB:
Q96AA3
UniParc:
UPI000000DA67
EMBL:
AJ318099,
BC006846,
CH471055,
BC043595
Ensembl:
ENSG00000163933
KO:
hsa:91869
|
| Nucleutide sequences |
EMBL-CDS:
AAH43595.1,
AAH06846.1,
CAC69544.1,
EAW65277.1
Ensembl_TRS:
ENST00000296292
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000296292
RefSeq:
XP_016862949.1,
XP_016862950.1,
XP_011532517.1,
XP_011532516.1,
XP_005265594.1,
XP_006713447.1,
NP_443091.1,
XP_011532518.1
|
| Others |
UniRef100:
UniRef100_Q96AA3
UniRef90:
UniRef90_Q96AA3
UniRef50:
UniRef50_Q96AA3
UniGene:
Hs.631910
CCDS:
CCDS2869.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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