MAP3K14 S140N - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

MAP3K14 S140N

(MAP3K14 Ser140Asn)


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 @ chr17:43364638: 0.8% (84/10108) in EVS
  • T @ chr17:40720420: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (84/10108)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr17:43364638

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr17:43364638

 

Other external references
 

    dbSNP
  • rs11574819
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)
  • MAP3K14 Gene - GeneCards | M3K14 Protein | M3K14 Antibody
    EntrezGene summary for MAP3K14: This gene encodes mitogen-activated protein kinase kinase ... MAP3K14 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=MAP3K14
  • Mitogen-activated protein kinase kinase kinase 14 - Homo ...
    MAP3K14. Synonyms: NIK. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... S N: dbSNP rs11574819. Ref.8. VAR_040711. Natural variant. 255. 1. T M: ...
    www.uniprot.org/uniprot/Q99558
  • Mooney Lab - MutDB
    MAP3K14. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs11574819. 40720420. A G. NCBI. In dbsnp. reverse. DBSNP:rs17846856 ...
    mutdb.org/cgi-bin/mutdb.pl?id=MAP3K14&geneid=9020
  • UniProt: Q99558
    DT 04-APR-2006, sequence version 2. DT 23-MAR-2010, entry version 102. DE ... H-InvDB; HIX0013897; -. DR H-InvDB; HIX0027152; -. DR HGNC; HGNC:6853; MAP3K14. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q99558

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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