GIGYF2

GRB10 interacting GYF protein 2

Summary

This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

Known Variants138 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs143913735	2:233,571,604	C/T	—	—
rs6746294	2:233,583,050	C/A	—	—
rs6755070	2:233,585,299	G/A	—	—
rs894857163	2:233,591,695	C/T	—	—
rs75911181	2:233,599,644	C/T	—	benign
rs11555646	2:233,599,904	A/C	—	benign
rs35785837	2:233,611,992	A/G	—	benign
rs76556984	2:233,612,041	G/T	—	benign
rs758763419	2:233,612,353	A/G	—	uncertain significance
rs115263050	2:233,612,356	A/G	—	uncertain significance
rs371272489	2:233,612,412	C/T	—	likely benign
rs747695811	2:233,612,445	A/G	—	likely benign
rs72554080	2:233,612,450	A/G	missense variant	risk factor
rs760666722	2:233,612,458	A/G	—	uncertain significance
rs3817311	2:233,612,557	C/T	—	benign
rs3817310	2:233,612,583	C/A	—	benign
rs11679079	2:233,612,656	C/T	—	benign
rs777409563	2:233,613,706	G/T	—	uncertain significance
rs1698248203	2:233,613,716	A/G	—	uncertain significance
rs374831276	2:233,613,766	C/T	—	likely benign
rs377476685	2:233,613,775	T/C	—	uncertain significance
rs138360511	2:233,621,014	C/T	—	uncertain significance
rs13430365	2:233,621,291	A/G	—	benign
rs1044480	2:233,633,736	A/G	—	benign
rs56777991	2:233,635,388	A/C	—	benign
rs758215900	2:233,641,141	T/C	—	likely benign
rs283485	2:233,645,691	G/A	upstream gene variant	—
rs283484	2:233,646,505	A/G	regulatory region variant	—
rs200754933	2:233,651,889	A/G	—	conflicting classifications of pathogenicity
rs13393621	2:233,655,236	G/A	—	benign
rs2289913	2:233,655,361	A/G	—	benign
rs374365974	2:233,655,519	G/T	—	uncertain significance
rs118203904	2:233,655,527	A/G	missense variant	risk factor
rs773211074	2:233,655,775	G/A	—	uncertain significance
rs776898936	2:233,655,790	T/A	—	uncertain significance
rs148277228	2:233,655,834	T/A	—	likely benign
rs749641279	2:233,655,994	T/A	—	uncertain significance
rs185920066	2:233,656,000	T/C	—	uncertain significance
rs141380400	2:233,656,111	C/T	—	uncertain significance
rs377143400	2:233,656,122	T/C	—	likely benign
rs115735611	2:233,656,136	A/G	missense variant	risk factor
rs34845648	2:233,656,142	C/T	—	benign
rs539250419	2:233,656,148	G/C	—	uncertain significance
rs283468	2:233,658,309	C/T	intron variant	—
rs759527420	2:233,659,458	A/G	—	uncertain significance
rs146944691	2:233,659,492	G/C	—	uncertain significance
rs780728520	2:233,659,541	C/T	—	uncertain significance
rs116074753	2:233,659,545	A/C	missense variant	risk factor
rs2289912	2:233,659,553	C/A	—	benign
rs761039750	2:233,659,556	A/G	—	likely benign
rs765300379	2:233,659,563	G/A	—	uncertain significance
rs2469879383	2:233,659,620	C/G	—	uncertain significance
rs2106368051	2:233,659,634	G/A	—	uncertain significance
rs2305139	2:233,660,704	T/G	—	benign
rs2305138	2:233,660,846	G/A	—	benign
rs2469882484	2:233,660,854	C/G	—	uncertain significance
rs187690406	2:233,661,051	C/T	intron variant	—
rs2469905390	2:233,671,198	T/C	—	likely benign
rs759254257	2:233,671,254	A/G	—	uncertain significance
rs114498122	2:233,671,277	G/T	—	likely benign
rs114460769	2:233,671,292	C/T	—	benign
rs3816335	2:233,671,530	A/G	—	benign
rs13401578	2:233,671,539	T/G	—	benign
rs118203903	2:233,674,441	C/G	missense variant	risk factor
rs1700674399	2:233,674,449	G/A	—	uncertain significance
rs60488964	2:233,675,899	C/T	—	benign
rs764554142	2:233,675,962	A/G	—	uncertain significance
rs74560358	2:233,675,965	C/T	—	likely benign
rs1700726618	2:233,675,986	A/G	—	uncertain significance
rs2469920080	2:233,677,115	A/G	—	uncertain significance
rs1352985398	2:233,680,356	G/A	—	uncertain significance
rs1700885234	2:233,680,385	A/G	—	uncertain significance
rs140105076	2:233,680,390	G/A	—	likely benign
rs773583857	2:233,680,456	C/T	—	likely benign
rs1078323	2:233,681,512	T/G	—	benign
rs780162732	2:233,681,615	C/G	—	uncertain significance
rs1179493396	2:233,681,652	A/G	—	likely benign
rs776618331	2:233,681,656	C/G	—	uncertain significance
rs761412816	2:233,681,689	C/A	—	uncertain significance
rs13408229	2:233,682,042	G/A	—	benign
rs2305141	2:233,684,402	A/G	—	benign
rs748538823	2:233,684,544	C/T	missense variant	pathogenic
rs766102116	2:233,684,552	C/T	—	uncertain significance
rs2469941320	2:233,684,612	C/G	—	uncertain significance
rs2469941506	2:233,684,649	G/A	—	uncertain significance
rs1327472255	2:233,684,655	A/T	—	uncertain significance
rs2106395236	2:233,684,685	T/C	—	uncertain significance
rs561616045	2:233,684,687	C/G	—	uncertain significance
rs11689661	2:233,684,833	C/T	—	benign
rs2197563	2:233,687,080	G/T	—	—
rs921055	2:233,697,337	A/C	—	benign
rs1183320926	2:233,697,616	G/A	—	uncertain significance
rs942702052	2:233,697,631	G/A	—	uncertain significance
rs778168948	2:233,697,634	T/C	—	uncertain significance
rs369380236	2:233,697,641	G/A	—	uncertain significance
rs1240947935	2:233,697,661	T/G	—	uncertain significance
rs2469969783	2:233,697,765	C/T	—	uncertain significance
rs2469969788	2:233,697,768	C/A	—	uncertain significance
rs2289911	2:233,704,252	A/G	—	benign
rs371613798	2:233,704,593	A/G	—	uncertain significance

Showing 100 of 138 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.