Table 2

 Axin2 variants in human diseases

Tissue typeExon/nt (bp)Position (aa)Domain affectedRef
Approximately 20% of mismatch repair deficient colorectal cancers harbour mutations in axin2. Most mutations are located around a G7 repeat in exon 7 (nt 637–714), which results in premature protein truncation.
aa, amino acids; APC, adenomatous polyposis coli; bp, base pair; CRC, colorectal cancer; del, deletion; EM, endometrial cancer; GSK3, glycogen synthase kinase 3; HB, hepatoblastoma; HCC, hepatocellular cancer; ins, insertion; nt, nucleotide; OEA, ovarian endometrioid adenocarcinoma.
CRC7L688X?53
CRC7E706X?53
OEA7G665X?101
CRC7E706Ter?103
EM7S658C?99
CRC/Oligodentia7R656X?104
CRC/Oligodentia7 (1995 ins G)?706X?104
HCC7R659W?97
HCC7 (2102; 
 >del 12 bp)del TTPR?97