AXIN1

axin 1

Summary

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Known Variants105 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs395545	16:337,750	C/A	—	—
rs762766340	16:338,128	C/T	—	likely benign
rs150808160	16:338,146	G/A	—	likely benign
rs753998549	16:338,151	T/G	—	uncertain significance
rs2141459394	16:338,174	A/G	—	uncertain significance
rs769195055	16:338,181	C/T	—	uncertain significance
rs775437317	16:338,182	G/C	—	uncertain significance
rs34015754	16:338,189	T/C	—	likely benign
rs370661416	16:338,190	G/A	—	pathogenic
rs547434148	16:338,226	C/A	—	uncertain significance
rs568525212	16:338,227	G/A	—	likely benign
rs2052441220	16:338,232	C/T	—	uncertain significance
rs768762328	16:338,257	C/T	—	likely benign
rs1191649060	16:339,445	G/C	—	uncertain significance
rs61753369	16:339,493	G/A	—	benign
rs113073289	16:339,499	C/T	—	likely benign
rs150183959	16:339,507	G/C	—	uncertain significance
rs748136050	16:339,532	G/A	—	likely benign
rs1220971406	16:339,551	A/G	—	uncertain significance
rs118063900	16:341,182	G/A	—	benign
rs1016858677	16:341,218	C/T	—	uncertain significance
rs2141476400	16:341,258	G/C	—	likely benign
rs377646481	16:341,261	G/A	—	likely benign
rs760350122	16:343,480	G/A	—	likely benign
rs189357878	16:343,481	G/A	—	likely benign
rs145099978	16:343,484	G/A	—	likely benign
rs141807086	16:343,506	C/T	—	uncertain significance
rs1567261095	16:343,507	G/A	—	uncertain significance
rs749294095	16:343,544	C/T	—	likely benign
rs79781539	16:343,691	G/A	—	benign
rs758124815	16:343,707	G/A	—	uncertain significance
rs117208012	16:347,063	C/T	—	benign
rs2548510497	16:347,119	T/A	—	uncertain significance
rs758547828	16:347,169	G/A	—	likely benign
rs214252	16:347,184	A/T	synonymous variant	—
rs371790424	16:347,198	T/C	—	uncertain significance
rs2052754946	16:347,771	A/G	—	uncertain significance
rs149536239	16:347,829	C/T	—	likely benign
rs143207998	16:347,834	C/T	—	uncertain significance
rs115321780	16:347,850	G/A	—	benign
rs374978030	16:347,892	G/A	—	likely benign
rs141481399	16:347,904	G/A	—	likely benign
rs139163339	16:347,928	C/T	—	benign
rs141699962	16:347,929	G/A	—	benign
rs1805102	16:347,931	G/A	—	benign
rs149849071	16:347,957	C/T	—	likely benign
rs147945282	16:347,973	C/T	—	benign
rs146947903	16:348,021	G/C	—	likely benign
rs752422812	16:348,055	C/T	—	uncertain significance
rs781377815	16:348,076	C/T	—	uncertain significance
rs560238796	16:348,127	C/T	—	uncertain significance
rs200184098	16:348,146	T/C	—	likely benign
rs776159008	16:348,154	C/T	—	likely benign
rs1200388281	16:348,192	C/A	—	likely benign
rs750617218	16:348,205	G/A	—	uncertain significance
rs966557459	16:348,231	G/A	—	likely benign
rs116350678	16:348,233	C/T	—	benign
rs2548515561	16:348,242	C/T	—	uncertain significance
rs1432410713	16:354,312	C/T	—	uncertain significance
rs368340732	16:354,314	C/T	—	uncertain significance
rs142097791	16:354,353	G/A	missense variant	—
rs151172370	16:354,391	C/T	—	likely benign
rs150141520	16:354,413	C/T	—	likely benign
rs201609463	16:354,414	G/A	—	uncertain significance
rs138744096	16:354,440	C/T	—	uncertain significance
rs534851766	16:354,637	C/T	—	—
rs556175248	16:355,775	A/C	—	—
rs767932573	16:357,299	G/A	—	—
rs781191470	16:357,744	G/A	—	—
rs187555279	16:357,871	C/T	intron variant	—
rs76038336	16:359,611	G/C	regulatory region variant	—
rs138082514	16:359,903	C/T	intron variant	—
rs769686933	16:359,963	C/T	—	likely benign
rs587776627	16:359,973	—	—	pathogenic
rs563996799	16:360,035	G/T	—	uncertain significance
rs1227566628	16:360,050	T/C	—	uncertain significance
rs11647223	16:361,321	C/G	—	—
rs74730393	16:367,926	A/G	intron variant	—
rs9921222	16:375,782	C/T	intron variant	—
rs552809365	16:377,493	G/A	—	—
rs189349434	16:378,117	C/G	regulatory region variant	—
rs12921862	16:381,927	C/A	intron variant	—
rs182152244	16:382,991	C/G	intron variant	—
rs569635361	16:388,698	G/A	—	—
rs182809760	16:389,466	G/C	intron variant	—
rs370681	16:392,461	C/T	regulatory region variant	—
rs13331491	16:394,343	C/G	—	—
rs150847929	16:395,296	C/G	intron variant	—
rs149712914	16:395,550	A/G	intron variant	—
rs1408273686	16:396,167	T/C	—	uncertain significance
rs147515329	16:396,193	G/A	—	likely benign
rs899023760	16:396,202	G/A	—	uncertain significance
rs35216805	16:396,239	G/T	—	uncertain significance
rs1805105	16:396,264	A/G	synonymous variant	benign
rs2141702063	16:396,341	C/G	—	uncertain significance
rs1352136687	16:396,431	G/T	—	uncertain significance
rs775836203	16:396,449	T/C	—	uncertain significance
rs372736221	16:396,508	A/G	—	uncertain significance
rs1263260045	16:396,835	G/C	—	uncertain significance
rs766212204	16:396,907	G/A	—	likely benign

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.