IQGAP2 V455A - 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:

IQGAP2 V455A

(IQGAP2 Val455Ala)


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

  • C @ chr5:75906851: 4.9% (524/10758) in EVS
  • C @ chr5:75942606: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (524/10758)

Publications
 

Genomes
 

 

 

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr5:75942607

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr5:75942607

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr5:75942607

 

Other external references
 

    dbSNP
  • rs7722711
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • IQGAP2 Gene - GeneCards | IQGA2 Protein | IQGA2 Antibody
    IQGAP2 Gene in genomic location: bands according to Ensembl, locations according ... for IQGAP2. R&D Systems Antibodies for IQGAP2 (IQGAP2, IQGAP1) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=IQGAP2
  • Ras GTPase-activating-like protein IQGAP2 - Homo sapiens (Human)
    ... GTPase-activating-like protein IQGAP2 OS=Homo sapiens GN=IQGAP2 PE=1 SV=4 ... like protein IQGAP2. Gene names. Name: IQGAP2. Organism. Homo sapiens ...
    www.uniprot.org/uniprot/Q13576
  • UniProt/SWISS-PROT: IQGA2_HUMAN
    ... Ras GTPase-activating-like protein IQGAP2; GN Name=IQGAP2; OS Homo sapiens (Human). OC ... activating-protein-related human protein IQGAP2 RT harbors a potential actin binding ...
    www.genome.jp/dbget-bin/www_bget?sp:IQGA2_HUMAN

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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