What is FHLdb?
FHLdb is a database of variants found in the literature of FHL syndrome. This has been made possible by a collaboration between the Translational Immunology Group from VHUH and the Clinical and Translational Bioinformatics research group from VHIR.
Where can I find my variant?
You can find all the variants of STXBP2 collected from the literature in our web page. The transcript and protein variants are ordered by position.
Which information is available for a variant?
We provide you:
- Bibliography: link to the main paper where the variant is described as well as other relevant scientific articles.
- Biallelic variant: whether a biallelic variant has been found responsible in a patient of FHL syndrome, either as homozygous or as compound heterozygous variant.
- Monoallelic variant: whether a monoallelic variant has been found responsible in a patient of FHL syndrome in the literature.
- Functional studies: whether a functional validation such as Western Blot experiment, has been conducted to prove that the variant is pathogenic.