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BTKbase specifications


Unique identifier OMICS_30193
Name BTKbase
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

Publication for BTKbase

BTKbase citations


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

PMCID: 5590079
PMID: 28928935
DOI: 10.5256/f1000research.10201.r17566

[…] 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 (, 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

PMCID: 3849551
PMID: 24074005
DOI: 10.1186/1471-2431-13-150

[…] 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 (, HGMD Biobase (, 1000 Genomes Project ( or the NHLBI Exome Sequencing Project (ESP) ( […]


Sequence and Structure Signatures of Cancer Mutation Hotspots in Protein Kinases

PLoS One
PMCID: 2759519
PMID: 19834613
DOI: 10.1371/journal.pone.0007485
call_split See protocol

[…] 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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BTKbase institution(s)
Institute of Medical Technology, University of Tampere, Tampere, Finland; Clinical Research Center, Karolinska Institutet, Huddinge, Sweden; Research Unit, Tampere University Hospital, Tampere, Finland

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