KDM6B S308L - GET-Evidence

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

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Curation:
Currentness:

KDM6B S308L

(KDM6B Ser308Leu)


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

  • T @ chr17:7750436: 0.3% (36/10744) in EVS
  • Frequency shown in summary reports: 0.3% (36/10744)

Publications
 

Genomes
 

Other external references
 

    Web search results (3 hits -- see all)
  • Lysine-specific demethylase 6B - Homo sapiens (Human)
    KDM6B. Synonyms: JMJD3, KIAA0346. Organism. Homo sapiens (Human) [Complete proteome] ... of the MLL4 complex, at least composed of MLL4, ASH2L, RBBP5, WDR5, and KDM6B. ...
    www.uniprot.org/uniprot/O15054
  • KDM6B Gene - GeneCards | KDM6B Protein | KDM6B Antibody
    KDM6B Gene in genomic location: bands according to Ensembl, locations according ... Cell Signaling Technology (CST) Antibodies for KDM6B (JMJD3) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=KDM6B
  • UniProt: O15054
    AC O15054; Q96G33; DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot. ... the CC MLL4 complex, at least composed of MLL4, ASH2L, RBBP5, WDR5, and CC KDM6B. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:O15054

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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