RYR2 | bioCADDIE Data Discovery Index
Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Displaying 20 of 24 results for "RYR2"
  1. RYR2_RABIT UniProt:Swiss-Prot

    ID: P30957

    Description: Ryanodine receptor 2 Cytoplasmic Helical Helical Helical Helical Helical Pore-forming Helical...

  2. Structure of the first domain of a cardiac Ryanodine Receptor mutant with exon 3 deleted PDB

    ID: PDB:3QR5

    Description: Cardiac Ca2+ release channel

  3. PRJEB1782 BioProject

    Keywords: Other

    Access Type: download

    dataset.description: sequenced six genes (KCNE1, KCNE2, KCNH2, KCNQ1, RYR2 and SCN5A) associated with important inherited cardiac conditions in a panel of well-characterised human DNA samples that contained 1256 previously reported disease-associated variants on both platforms. The MiSeq produced a higher proportion of high-quality, on-target reads, but coverage was less even. Overall, 97.9% of the target was sequenced adequately for variant calling on the MiSeq, and 96.8% on the PGM. Regions missed tended to be of high GC-content (>80%), and most were problematic for both platforms, though some GC-independent drop-out was also seen on the MiSeq. For captured regions (96.9%, MiSeq; 95.5% PGM), sensitivity (100%, MiSeq; 99.1%, PGM) and positive predictiv...
  4. Whole Genome Sequencing of Asian Lung Cancers: Second Hand Smoke is Not Responsible for Higher Incidence of Lung Cancer Among Asian Never-Smokers OmicsDI

    ID: EGAS00001000621

    Date Released:

    Description: g cluster. Other frequently mutated genes include RYR2, SATB2, C1orf88, FERMT1 and CTNNB1. Somatic alterations occurred in WNT signaling pathway genes, suggesting this pathway plays a role in both Western and Asian lung cancers. Conclusions Asian never-smokers have lung cancer signatures distinct from the smoker signature and their mutation profiles are similar to that of European never-smokers. The profiles of Asian and European smokers are also similar. This suggests that the same mutational mechanisms underlie the etiology for both ethnic groups, and the high incidence of lung cancer in Asian never-smokers might not be due to second hand smoke or other carcinogens that cause oxidative DNA damage. Half of the ex-smokers/smokers have a molecular phenotype similar to never-smokers; of which, 50% had EGFR mutations. This suggests that routine EGFR testing is warranted in the Asian population, regardless of smoking status....

Displaying 20 of 24 results for "RYR2"