GARS P42A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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GARS P42A

(GARS Pro42Ala)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr7:30634661: 74.4% (7182/9656) in EVS
  • G @ chr7:30601185: 63.6% (75/118) in GET-Evidence
  • Frequency shown in summary reports: 74.4% (7182/9656)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the GARS gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular At
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GARS
    Web search results (12 hits -- see all)
  • AceView: Gene:GARS, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=GARS
  • ROCK-BCFG (BRCAbase) - Browse - Gene Expression Signatures ...
    ROCK-BCFG (BRCAbase) aims to provide a single online interface for the management, navigation, cross-linking and cross-correlation of data relating to breast cancer ...
    brcabase.icr.ac.uk/browse/view_gexp_signature.jsp?sig_id=47
  • 1 3516 sanPF 1.000 PFD0265w 100% splicing factor ...
    ... 1182214) 2 3350 ensHS 1.000 ENSP00000351750 100% DNCH1 Homo_sapiens.NCBI35.dec. ... ENSG00000197102 transcript:ENST00000358878 Q14204 3 2170 sanPF 1.000 PFI0260c ...
    inparanoid.sbc.su.se/download/old_versions/data_5.0/...
  • PAI Accession Number Proteins 0,018518519 Q9NR96|TLR9_HUMAN ...
    0,052631579 Q96AY3|FKB10_HUMAN FK506-binding protein 10 precursor (EC ... ATP synthase B chain, mitochondrial precursor (EC 3.6.3. 0,044444444 Q6NW34|CC017_HUMAN ...
    biomedcentral.com/.../supplementary/1477-5956-6-27-S1.pdf
  • Supplemental_table2.xls
    Table 2 (Supplemental): Complete data for all 100 recurrent expression programs ... (26S proteasome regulatory subunit S10) (p42A) (Proteasome regulatory ...
    people.csail.mit.edu/georg/GeneTopic/Supplemental_table2.xls
  • Elf3 : Interactions : UCSD-Nature Molecule Pages
    GARS: Glycyl-tRNA synthetase (Glycine--tRNA ligase) (GlyRS) [Homo sapiens] ... subunit 6 (26S proteasome regulatory subunit S10) (p42A) (Proteasome regulatory ...
    signaling-gateway.org/molecule/query?...&adv=latest
  • GPM - Ontology Collection, GO:0005829 cytosol
    MYH9, Myosin-9 (Myosin heavy chain 9)(Myosin heavy chain, non-muscle ... (GARS)(Phosphoribosylglycinamide synthetase): Phosphoribosylformylglycinamidine ...
    gpmdb.thegpm.org/go/GO0005829.html
  • MEG1550
    GART.AIRS;GARS;PAIS;PGFT;PRGS;GARTF;MGC47764.phosphoribosylglycinamide formyltransferase, ... p42A. CG5378. Human. 0.52 (772) FARP2.KIAA0107.KIAA0107 gene product. ...
    cmgm.stanford.edu/~kimlab/.../Neighborhoods/MEG1550p.html
  • Ikbke : Interactions : UCSD-Nature Molecule Pages
    GARS: Glycyl-tRNA synthetase (Glycine--tRNA ligase) (GlyRS) [Homo sapiens] ... subunit 6 (26S proteasome regulatory subunit S10) (p42A) (Proteasome regulatory ...
    signaling-gateway.org/molecule/query?...&adv=latest
  • Détails du Torrent "les sims 2 Double Deluxe avec 7 disques ...
    Torrent 411 - Les Pages Jaunes du Torrent Francais - French Torrent Tracker - Tracker Torrent Fr - L'Académie du Torrent Français
    torrent411.com/torrents/les_sims_2_Double_Deluxe_avec_7_d...

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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