TARBP1 D513G - GET-Evidence

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

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Curation:
Currentness:

TARBP1 D513G

(TARBP1 Asp513Gly)


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

  • C @ chr1:234595070: 2.2% (241/10758) in EVS
  • C @ chr1:232661692: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (241/10758)

Publications
 

Genomes
 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:232661693

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr1:232661693

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr1:232661693

 

Other external references
 

    dbSNP
  • rs35562024
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.961 (probably damaging)
    Web search results (4 hits -- see all)
  • Probable methyltransferase TARBP1 - Homo sapiens (Human)
    ... Probable methyltransferase TARBP1 OS=Homo sapiens GN=TARBP1 PE=1 SV ... is mutually exclusive, suggesting that TARBP1 may function alone or in ...
    www.uniprot.org/uniprot/Q13395
  • UniProt: TARB1_HUMAN
    ... by RNA polymerase II. Binding of TARBP1 CC and RNA polymerase II to ... mutually exclusive, CC suggesting that TARBP1 may function alone or in conjunction with CC HIV-1 Tat to ...
    www.kegg.com/dbget-bin/www_bget?uniprot:TARB1_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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