" />Variant Map - DICER1 Syndrome

The following variant maps document a curated list of germline and somatic variants identified in the DICER1 gene through literature review and from unpublished cases from our research group. Each green dot represents a single variant, with the size of the dot representing the number of documented cases. Hovering over a dot will provide additional information regarding the location of the variant and molecular alteration (at the nucleotide and amino acid level), the domain in which the variant is found (see the legend below the variant maps for a description of the domains), and number of cases identified with this variant. Please note for the germline variants that each documented case represents one individual, and that multiple cases may represent individuals from the same family. For the somatic variants, please note that each dot represents a unique tumor, and that multiple tumors may have come from the same individual.

Domain Legend: 1= Before DEXD/H, 2 = DEXD/H, 3 = Between DEXD/H and TRBPBD, 4 = TRBPBD, 5 = Between TRBPBD and HELICc, 6 = HELICc,7 = Between HELICc and DUF, 8 = DUF, 9 = Between DUF and Platform, 10 = Platform, 11 = Between Platform and PAZ, 12 = PAZ, 13 = Between PAZ and CH, 14 = connector helix, 15 = Between CH and RNase IIIa, 16 = RNase IIIa, 17 = Between RNase IIIa and IIIb, 18 = RNase IIIb, 19 = Between RNase IIIb and bdRBD, 20 = dsRBD.

Domain Legend: 1= Before DEXD/H, 2 = DEXD/H, 3 = Between DEXD/H and TRBPBD, 4 = TRBPBD, 5 = Between TRBPBD and HELICc, 6 = HELICc,7 = Between HELICc and DUF, 8 = DUF, 9 = Between DUF and Platform, 10 = Platform, 11 = Between Platform and PAZ, 12 = PAZ, 13 = Between PAZ and CH, 14 = connector helix, 15 = Between CH and RNase IIIa, 16 = RNase IIIa, 17 = Between RNase IIIa and IIIb, 18 = RNase IIIb, 19 = Between RNase IIIb and bdRBD, 20 = dsRBD.