| Type | Description |
|---|---|
| Definition | replication factor C subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:38:00 | No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA. | 32151945 |
| 2021-03-20 13:35:00 | Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. | 33495376 |
| 2021-02-20 13:31:00 | A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. | 33103729 |
| 2021-02-20 13:30:00 | A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. | 32851396 |
| 2020-12-26 13:12:00 | Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy. | 32939785 |
| Type | IDs |
|---|---|
| Synonymous | A1, MHCBFB, PO-GA, RECC1, RFC, RFC140 |
| Gene |
UniProtKB-ID:
RFC1_HUMAN
UniprotKB:
P35251
UniParc:
UPI0000192721,
UPI0000167BB4
EMBL:
L23320,
BC051751,
BC051786,
BC035297,
AK291612,
AY600371,
AF040250,
CH471069,
Z22642
Ensembl:
ENSG00000035928
KO:
hsa:5981
|
| Nucleutide sequences |
EMBL-CDS:
AAS94325.1,
AAB99788.1,
CAA80355.1,
EAW92923.1,
AAA16121.1,
BAF84301.1,
AAH51786.1,
AAH51751.1,
AAH35297.1
Ensembl_TRS:
ENST00000349703,
ENST00000381897
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261424,
ENSP00000371321
RefSeq:
NP_002904.3,
XP_011512033.1,
NP_001350424.1,
NP_001191676.1,
NP_001350425.1
|
| Others |
UniRef100:
UniRef100_P35251
UniRef90:
UniRef90_P35251
UniRef50:
UniRef50_P35251
UniGene:
Hs.507475
CCDS:
CCDS3450.1,
CCDS56329.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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