University of Utah Pathology ARUP Laboratories Online Scientific Resource
  • Dept. Path.:  
  • a to z index
  • |
  • map
  • |
  • directory
  • |
  • calendar
ARUP Laboratories
  • Home
  • Collaborate With ARUP
    • Areas of Interest
    • Disease & Technology Expertise
    • Academic Collaborations
    • Industry Collaborations
    • ARUP Seminars
    • How to Start
  • Educational Resources
    • Video Lectures
    • Short Topics
    • Case Reports
    • Medical Conferences
    • Published Articles & Citations
  • Mutation Databases
    • ALPORT (COL4A5)
      • ALPORT Database
      • ALPORT Links
      • ALPORT Submissions
    • Biotinidase Deficiency (BTD)
      • BTD Database
      • BTD Links
      • BTD Submissions
    • Galactosemia (GALT)
      • GALT Database
      • GALT Links
      • GALT Submissions
    • HHT (ACVRL1 and ENG)
      • ACVRL1 Database
      • ENG Database
    • Juvenile Polyposis Syndrome (SMAD4)
      • SMAD4 Database
      • SMAD4 Links
      • SMAD4 Submissions
    • Legius Syndrome (SPRED1)
      • SPRED1 Database
      • SPRED1 Links
      • SPRED1 Submissions
    • MEN1 (Menin)
      • MEN1 Database
      • MEN1 Links
      • MEN1 Submissions
    • MEN2 (RET)
      • MEN2 Database
      • MEN2 Links
      • MEN2 Submissions
    • Primary Carnitine Deficiency (SLC22A5)
      • SLC22A5 Database
      • SLC22A5 Links
      • SLC22A5 Submissions
    • Pulmonary Arterial Hypertension (BMPR2)
      • BMPR2 Database
      • BMPR2 Links
      • BMPR2 Submissions
    • RASA1-Related Disorders
      • RASA1 Database
      • RASA1 Links
      • RASA1 Submissions

RASA1 References

The web links shown below are existing online resources for RASA1 and associated Arteriovenous Malformation (AVM), Capillary Malformation (CM), and Parkes-Weber syndrome (PKWS). Links to several review journal articles are given, as well as genome and protein links.

Please contact us to suggest additional content for this page.

Databases

  • RASA1: The Human Gene Mutation Database
  • RASA1: MutDB

Gene and Protein Links

  • RASA1 cDNA: NC_000005.9
  • RASA1 mRNA: NM_002890.1
  • RASA1 protein: NP_002881
  • RASA1 at HPRD and Uniprot

Web Reviews

  • Entrez Gene: RASA1
  • OMIM for RASA1, Parkes-Weber syndrome, Capillary Malformation-arteriovenous Malformation
  • Genetics Home Reference for RASA1

Peer-Reviewed Literature

  • Revencu et al. Parkes Weber syndrome, vein of Galen aneurismal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation 2008. 29(7):959-65.
  • Hershkovitz et al. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. British Journal of Dermatology 2008. 158(5):1035-40.
  • Eerola et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. American Journal of Human Genetics 2003. 73(6):1240-9.
  • Brouillard and Vikkula. Genetic causes of vascular malformations. Human Molecular Genetics 2007. 16(2):140-9.
    • RASA1 Home
    • RASA1 Database
    • RASA1 Links
    • RASA1 Submissions
  • About ARUP Laboratories

    ARUP Laboratories is a national reference laboratory that supports the testing needs of hospitals and laboratories throughout the U.S. ARUP also serves as a training site for pathology residency and fellowship programs.

    Visiting ARUP Laboratories
    • Directions
    • Locations & Contact Information
    • Tour ARUP Laboratories
  • Contact Information
    • RASA1 Mutations
      Pinar Bayrak-Toydemir, MD, PhD, FACMG
      Assistant Professor (Clinical)
      Dept. of Pathology, University of Utah
      Medical Director, Molecular Genetics
      (801) 583-2787, x3171
      pinar.bayrak-toydemir@aruplab.com
    • RASA1 Submissions
      Whitney Wooderchak, PhD
      Database Curator
      (801) 583-2787 x2911
      whitney.wooderchak@aruplab.com
    • RASA1 Testing
      ARUP Client Services
      ARUP Laboratories
      (800) 522-2787
      clientservices@aruplab.com
    • Website
      David Crockett, PhD
      Director, Bioinformatics
      (801) 583-2787, x2388
      david.crockett@utah.edu
  • © 2006 - 2013 ARUP LABORATORIES
  • THE UNIVERSITY OF UTAH
  • DISCLAIMER
  • WEBMASTER