| Type | Description |
|---|---|
| Definition | FA complementation group A |
| Date | Results | Publications |
|---|---|---|
| 2021-03-20 13:30:00 | The FANC/BRCA Pathway Releases Replication Blockades by Eliminating DNA Interstrand Cross-Links. | 32466131 |
| 2021-02-06 13:56:00 | Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. | 31586946 |
| 2020-06-20 10:29:00 | Sanger's sequencing of the nine selected exons of FANCA gene in Fanconi anemia (FA) cases revealed 19 genetic alterations of which 15 were single nucleotide variants, three were insertions and one was microdeletion. | 30809872 |
| 2020-05-30 10:33:00 | Elevated FANCA expression interferes with p53 function and is associated with chronic lymphocytic leukemia. | 31251079 |
| 2019-12-28 11:44:00 | unique consanguineous family with 2 genomic instability disorders, Fanconi anemia and ataxia telangiectasia, revealed exceptional combinations of null mutations in the FANCA and ATM genes | 30339652 |
| Type | IDs |
|---|---|
| Synonymous | FA, FA-H, FA1, FAA, FACA, FAH, FANCH |
| Gene |
UniProtKB-ID:
FANCA_HUMAN
UniprotKB:
O15360
UniParc:
UPI0002467269,
UPI0000520A1A,
UPI00001833BE
EMBL:
AC005567,
Z83082,
Z83092,
AY598423,
Z83084,
Z83079,
Z83067,
AJ225085,
Z83076,
X99226,
AC005360,
AF054569,
Z83093,
Z83088,
Z83071,
Z83081,
BC141972,
Z83151,
Z83072,
Z83074,
Z83091,
Z83073,
Z83077,
AJ225084,
Z83080,
Z83069,
Z83078,
Z83087,
Z83083,
Z83085,
Z83094,
Z83095,
AC005565,
AC092385,
Z83086,
Z83070,
Z83090,
Z83089,
Z83075,
AK299282,
Z83068,
BC008979
Ensembl:
ENSG00000187741
KO:
hsa:2175
|
| Nucleutide sequences |
EMBL-CDS:
CAA67610.1,
AAC33304.1,
AAC28331.1,
CAA12394.1,
AAI41973.1,
BAG61299.1,
AAC33401.1,
AAS99350.1,
AAH08979.1,
AAC28751.1,
CAB05445.1,
CAA12393.1
Ensembl_TRS:
ENST00000389302,
ENST00000568369,
ENST00000389301
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000456829,
ENSP00000373952,
ENSP00000373953
RefSeq:
NP_001338759.1,
NP_001273096.1,
NP_001018122.1,
NP_000126.2
|
| Others |
UniRef100:
UniRef100_O15360
UniRef90:
UniRef90_O15360
UniRef50:
UniRef50_O15360
UniGene:
Hs.744083
CCDS:
CCDS67099.1,
CCDS42221.1,
CCDS32515.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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