RNF43 R343H - GET-Evidence

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Curation:
Currentness:

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RNF43 R343H

(RNF43 Arg343His)


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Allele frequency

  • T @ chr17:56436109: 11.6% (1246/10730) in EVS
  • T @ chr17:53791107: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 11.6% (1246/10730)

Publications
 

Genomes
 

Added in this revision:

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr17:56436109

 

Other external references
 

    dbSNP
  • rs34523089
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (4 hits -- see all)
  • RNF43 Gene - GeneCards | RNF43 Protein | RNF43 Antibody
    EntrezGene summary for RNF43: RNF43 is a HAP95 (AKAP8L; MIM 609475) ... RNF43 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RNF43
  • RING finger protein 43 precursor - Homo sapiens (Human)
    "A novel oncoprotein RNF43 functions in an autocrine manner in colorectal cancer. ... cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that ...
    www.uniprot.org/uniprot/Q68DV7
  • UniProt: Q68DV7
    ... Nakamura Y.; RT "A novel oncoprotein RNF43 functions in an autocrine manner in ... "A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase RT that ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q68DV7

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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