BCAR1 R491H - GET-Evidence

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

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Curation:
Currentness:

BCAR1 R491H

(BCAR1 Arg491His)


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 @ chr16:75269325: 2.2% (237/10712) in EVS
  • T @ chr16:73826825: 3.8% (3/78) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (237/10712)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr16:75269325

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr16:75269325

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr16:75269325

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr16:75269325

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr16:75269325

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr16:73826826

 

Other external references
 

    dbSNP
  • rs16957558
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (10 hits -- see all)
  • BCAR1 Gene - GeneCards | BCAR1 Protein | BCAR1 Antibody
    EntrezGene summary for BCAR1: BCAR1, or CAS, is an Src (MIM 190090) family kinase ... Millipore Mono- and Polyclonal Antibodies for the study of BCAR1 ...
    genecards.org/cgi-bin/carddisp.pl?.../carddisp.pl&search=KDR
  • BCAR1 Gene - GeneCards | BCAR1 Protein | BCAR1 Antibody
    EntrezGene summary for BCAR1: BCAR1, or CAS, is an Src (MIM 190090) ... BCAR1 Gene in genomic location: bands according to Ensembl, locations according ...
    genecards.hgc.jp/cgi-bin/carddisp.pl?gene=BCAR1
  • Breast cancer anti-estrogen resistance protein 1 - Homo ...
    BCAR1. Synonyms: CAS, CASS1, CRKAS. Organism. Homo sapiens (Human) ... "BCAR1, a human homologue of the adapter protein p130Cas, induces anti-estrogen ...
    www.uniprot.org/uniprot/P56945
  • Mooney Lab - MutDB
    Gene ID: BCAR1. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... BCAR1. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=BCAR1&geneid=9564
  • UniProt: BCAR1_HUMAN
    AC P56945; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 09-FEB-2010, sequence ... "BCAR1, a human homologue of the adapter protein p130Cas, induces RT ...
    www.genome.jp/dbget-bin/www_bget?uniprot:BCAR1_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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