| Type | Description |
|---|---|
| Definition | valyl-tRNA synthetase |
| Date | Results | Publications |
|---|---|---|
| 2019-04-13 11:08:00 | Variants map to the VARS tRNA binding domain and adjacent to the anticodon domain, and disrupt highly conserved residues. Patient primary cells show intact VARS protein but reduced enzymatic activity, suggesting partial loss of function. The implication of VARS in pediatric neurodegeneration broadens the spectrum of human diseases due to mutations in tRNA synthetase genes. | 30755602 |
| 2019-03-30 10:24:00 | Our study describes the phenotype associated with recessive VARS mutations and further functional delineation of the pathogenicity of novel variants identified, which widens the clinical and genetic spectrum of patients with progressive microcephaly | 29691655 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association. (HuGE Navigator) | 19913121 |
| 2010-09-15 22:06:00 | Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | 20628086 |
| 2010-01-21 00:00:00 | The first three-dimensional structure of the the valyl-tRNA synthetase/elongation factor-1H complex as calculated from electron microscopic images of negatively stained samples of the human ValRS/EF-1H complex was obtained. | 16229838 |
| Type | IDs |
|---|---|
| Synonymous | G7A, NDMSCA, VARS1, VARS2 |
| Gene |
UniProtKB-ID:
SYVC_HUMAN,
A0A024RCN6_HUMAN
UniprotKB:
P26640,
A0A024RCN6
UniParc:
UPI00017A84B8,
UPI00001366EA
EMBL:
AF134726,
AL662899,
KY500923,
M98326,
X59303,
CH471081,
AL662834,
CR925765,
BC012808,
KY500918,
BA000025,
AL671762,
KY500915,
AK302762
Ensembl:
ENSG00000231116,
ENSG00000224264,
ENSG00000226589,
ENSG00000096171,
ENSG00000204394
KO:
hsa:7407
|
| Nucleutide sequences |
EMBL-CDS:
AAD21819.1,
AAH12808.1,
EAX03523.1,
AAA81332.1,
BAB63303.1,
CAA41990.1,
BAG63973.1,
AQY77379.2,
AQY77387.2,
AQY77382.2,
EAX03524.1
Gene_ORFName:
hCG_43695
Ensembl_TRS:
ENST00000211402,
ENST00000422694,
ENST00000457796,
ENST00000435657,
ENST00000375663
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000415316,
ENSP00000401121,
ENSP00000211402,
ENSP00000403359,
ENSP00000364815
RefSeq:
XP_016866735.1,
XP_005249419.1,
XP_024302305.1,
NP_006286.1
|
| Others |
UniRef100:
UniRef100_P26640
UniRef90:
UniRef90_P26640
UniRef50:
UniRef50_P26640
UniGene:
Hs.520026
CCDS:
CCDS34412.1
|
| {{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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