Human DNA Variant card (with format conversion) Shows details of a human variant such as the biological effect, isoforms, any related diseases and Pubmed citations. Converts the descriptions of the variants (genomics, mRNA and protein) in the format HGVS, VCF and local. (by Ivano Zara)
This application shows the description of the variant in the various formats (Local, VCF, HGVS genomic and HGVS of all isoforms). It also shows the affected region and the biological effect of the variant on the protein. Note that this application aligns the 'gaps' (indel) on the left in the Local and VCF formats, while it aligns them on the right in HGVS formats Furthermore, it also checks that the possible sequence of the references is correct (warns if incorrect)and checks whether to consider the duplication or inversion variant.
If the variant falls within the CDS, it is possible to see the alignment of the genomic, transcript and protein sequence (with the protein change) in a region around the variant using the link to the 'AlignTrascript' application present in this platform
It also shows the affected region and the biological effect of the variant on the protein.
Note that this application aligns the 'gaps' (indel) on the left in the Local and VCF formats, while it aligns them on the right in HGVS formats
Furthermore, it also checks that the possible sequence of the references is correct (warns if incorrect)and checks whether to consider the duplication or inversion variant.
If the variant falls within the CDS, it is possible to see the alignment of the genomic, transcript and protein sequence (with the protein change) in a region around the variant using the link to the 'AlignTrascript' application present in this platform