FIGURE 2.

Genomic structure of AXIN2 gene showing the location of variants associated to colorectal adenomatous polyposis or CRC. Boxes represent exons. Pathogenic/likely pathogenic AXIN2 variants described in this study are indicated in black. All were novel, except two (marked by #). ¹⁰ , ²¹ Variants which were described in other studies are indicated in gray. ⁹ , ¹¹ , ¹² , ¹³ , ¹⁴ , ¹⁵ Functional domains of AXIN2 protein are shown below. ⁴ , ²² , ²³ , ²⁴ TBM, tankyrase‐binding motifs (role in regulation of AXIN2 stability); ²² , ²³ , ²⁴ , ²⁵ RGS, regulator of G‐protein signaling (APC‐binding domain); GSK‐bd, glycogen synthase kinase 3β‐binding domain; β‐cat‐bd, β‐catenin‐binding domain; ⁴ SMAD3‐bd, SMAD3‐binding domain; ⁴ , ²⁴ DIX, Disheveled and Axin (Disheveled‐binding domain and Axin homodimerisation). ⁴