VCAN D2937Y - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

VCAN D2937Y

(VCAN Asp2937Tyr)


You are viewing an old version of this page that was saved on February 27, 2010 at 9:24pm by Genome Importing Robot.

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 @ chr5:82837631: 38.8% (4173/10758) in EVS
  • T @ chr5:82873386: 36.7% (47/128) in GET-Evidence
  • Frequency shown in summary reports: 38.8% (4173/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr5:82837631

 

NA18507

 

NA19129

 

snp-1

 

snp-18

 

snp-2

 

snp-29

 

snp-3

 

Added in this revision:

snp-30

 

snp-31

 

snp-5

 

Other external references
 

    dbSNP
  • rs160277
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.11 (benign)
    Web search results (8 hits -- see all)
  • BioPortfolio - VCAN - versican
    VCAN - versican - Bioportfolio ... Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence susceptibility to intestinal-type gastric cancer. ...
    www.bioportfolio.com/gene/1462-VCAN.html
  • HuGENavigator|HuGE Literature Finder|Search
    An integrated, searchable knowledge base of genetic associations and human genome epidemiology ... Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence ...
    hugenavigator.net/HuGENavigator/...&firstQuery=VCAN
  • Choi, B (Bo)
    Synthesis and antiviral activity of noveltrans-2,2-dimethyl cyclopropyl nucleosides. Genetic variants A1826H and D2937Y in GAG-beta ...
    lib.bioinfo.pl/auid:7446273
  • BioPortfolio - VCAN research
    VCAN research - Bioportfolio ... Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence susceptibility to intestinal-type gastric cancer. ...
    www.bioportfolio.com/gene/1462-VCAN/research.html
  • ((VCAN[TIAB]) OR (versican[TI]) OR (CSPG2[TIAB])) AND ((Genes ...
    Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in ... A1826H and D2937Y in GAG-beta domain of versican influence ...
    ncbi.nlm.nih.gov/pubmed?term=((VCAN[TIAB])+OR+...+days"[dp]
  • Author - NextBio
    VCAN. VEGFA. ZNF43. Sizes of these terms reflect their relevance to your ... Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence ...
    www.nextbio.com/b/search/author/Seung-Moo Noh
  • RefSeq: NP_001119808
    SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; ... Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence ...
    www.genome.jp/dbget-bin/www_bget?refseq+NP_001119808
  • "Ju H "[Author] の検索結果 - ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズにする ...
    Genetic variants A1826H and D2937Y in GAG-beta domain of versican influence susceptibility to intestinal-type ... in the versican gene (VCAN) encoding amino acid changes in ...
    www.atgcchecker.com/search/?search="Ju+H+"[Author]

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in