KLF11 Q62L - GET-Evidence

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

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Curation:
Currentness:

KLF11 Q62L

(KLF11 Gln62Leu)


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

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.992 (probably damaging)
    Web search results (19 hits -- see all)
  • KLF11 Gene - GeneCards | KLF11 Protein | KLF11 Antibody
    KLF11 Gene in genomic location: bands according to Ensembl, locations ... and Polyclonal Antibodies from Abnova (KLF11) Novus Biologicals Antibodies for KLF11 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=KLF11
  • Original Article: Genetics
    KLF11. are unlikely to have a major effect of Type 2 diabetes in the Japanese population, ... G allele in rs35927125. No SNPs across. the coding region of the KLF11 gene showed a ...
    genome.tokushima-u.ac.jp/dgi/.../2008/Diabet Med. 2008.pdf
  • Genetic Analysis of Kruppel-Like Zinc Finger 11 Variants in ...
    KLF11 mRNA is highly expressed in the pancreas but is also present in multiple tissues ... The Gln62Arg KLF11 variant may have functional implications (1), and here we analyzed ...
    jcem.endojournals.org/cgi/content/full/93/8/3128
  • Krueppel-like factor 11 - Homo sapiens (Human)
    Defects in KLF11 are the cause of maturity-onset diabetes of the young type 7 ... "Role of transcription factor KLF11 and its diabetes-associated gene variants in ...
    www.uniprot.org/uniprot/O14901
  • Excision repair of benzo[a]pyrene-deoxyguanosine adducts in ...
    BioInfoBank Library :: Excision repair of benzo[a]pyrene-deoxyguanosine adducts in baby hamster kidney 21/C13 cells and in secondary mouse embryo fibroblasts C57BL ...
    lib.bioinfo.pl/pmid:265591
  • The Krüppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not ...
    at KLF11 Q62R. We conclude that the KLF11 A347S and. T220M mutations ... expression of KLF11 in. pancreatic -cells and showed that activated KLF11 bound. and ...
    diabetes.diabetesjournals.org/content/55/12/...
  • The Krüppel-Like Factor 11 (KLF11) Q62R Polymorphism Is Not ...
    Krüppel-like factor 11 (KLF11) encodes an SP1-like transcription factor that is ... of KLF11 in pancreatic β-cells and showed that activated KLF11 bound ...
    diabetes.diabetesjournals.org/content/55/12/3620.full
  • Clinical assessment incorporating a personal genome
    KLF11. TCF7L2. EPO. PPARGC1A. RAI1, SREBF1. CDKAL1. IGF2BP2. CDKAL1. PPARG ... rs35927125. rs7901695. rs1617640. rs8192678. rs11868035. rs10811661. rs7756992. rs564398 ...
    arep.med.harvard.edu/pdf/Ashley_Lancet_10.pdf
  • Shiota, H (H)
    Shiota, H (H) :: Efficacy of acycloguanosine against herpetic ulcers in rabbit cornea. ... CONCLUSIONS: Genetic variants in KLF11 are unlikely to have a major effect of Type 2 ...
    lib.bioinfo.pl/auid:894991

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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