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Publication for BTKbase
Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X linked agammaglobulinemia
[…] shift insertion c.1325dupT in exon 14 of the BTK gene. The mutation was found to be homozygous in child and heterozygous in mother. The identified mutation c.1325dupT has not yet been reported in the BTKbase and absent in ExAC, 1000genome as well as internal control databases from South Asia and Middle East ( http://clingen.igib.res.in/almena), which confirms the novelty of the variation. The mut […]
Atypical X linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient
[…] t with minimal findings in other organ systems was reported .Amino acid P116 is well conserved among different species. The variant c.347C > T was not observed in the BTK base (http://bioinf.uta.fi/BTKbase/), HGMD Biobase (http://www.biobase-international.com/product/hgmd), 1000 Genomes Project (http://www.1000genomes.org/) or the NHLBI Exome Sequencing Project (ESP) (http://evs.gs.washington.ed […]
Sequence and Structure Signatures of Cancer Mutation Hotspots in Protein Kinases
[…] MIC , SwissProt –, and Protein Data Bank (PDB) . We have also integrated non-redundant information about genetic variations in protein kinases from more specialized resources PupaSNP , KinMutBase , , BTKbase , HGMD , , PKR , and MoKCa .Main entries in CKMD were indexed as genes and each gene entry contained many sub-entries of related information associated with that gene. We opted the gene id (Ge […]
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