PARK7

Parkinsonism associated deglycase

Summary

The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants110 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17523802	1:8,021,740	G/A	regulatory region variant	likely benign
rs557801400	1:8,021,750	G/C	—	uncertain significance
rs226249	1:8,021,778	C/T	—	benign
rs140230911	1:8,021,797	T/A	—	uncertain significance
rs11121064	1:8,021,807	C/T	—	benign
rs886046544	1:8,021,847	G/C	—	uncertain significance
rs35675666	1:8,021,973	G/T	regulatory region variant	benign
rs226250	1:8,022,171	C/T	—	benign
rs3766606	1:8,022,197	G/T	regulatory region variant	benign
rs17031860	1:8,022,753	T/G	—	benign
rs11548933	1:8,022,824	C/T	—	benign
rs767539467	1:8,022,861	G/T	—	uncertain significance
rs1309873819	1:8,022,873	C/G	—	uncertain significance
rs752342660	1:8,022,899	G/A	—	likely benign
rs758016497	1:8,022,901	C/T	—	uncertain significance
rs370430693	1:8,022,904	T/C	—	uncertain significance
rs757247182	1:8,022,912	G/A	—	uncertain significance
rs781346135	1:8,022,918	G/A	—	uncertain significance
rs74315351	1:8,022,923	G/A	missense variant	pathogenic
rs374429170	1:8,022,927	C/T	—	pathogenic
rs142405016	1:8,022,928	G/A	—	likely pathogenic
rs7517357	1:8,025,275	C/T	intron variant	benign
rs1306465390	1:8,025,373	C/T	—	uncertain significance
rs539876064	1:8,025,379	C/T	—	likely benign
rs756040385	1:8,025,380	G/A	—	likely benign
rs749054218	1:8,025,384	A/G	—	uncertain significance
rs1640301189	1:8,025,389	G/A	—	likely benign
rs772272696	1:8,025,394	C/T	—	uncertain significance
rs770946447	1:8,025,396	G/A	—	uncertain significance
rs137853051	1:8,025,408	G/T	missense variant	pathogenic
rs1553122918	1:8,025,426	C/T	—	pathogenic
rs2527325021	1:8,025,434	C/G	—	uncertain significance
rs760020407	1:8,025,435	C/T	—	uncertain significance
rs114601558	1:8,025,459	G/A	—	likely benign
rs2527325118	1:8,025,460	C/T	—	uncertain significance
rs74315353	1:8,025,485	G/C	missense variant	pathogenic
rs325960	1:8,025,723	A/C	—	benign
rs76252376	1:8,025,816	C/T	—	benign
rs41278958	1:8,029,126	A/G	—	likely benign
rs11801605	1:8,029,256	A/G	—	benign
rs41278962	1:8,029,319	G/A	—	benign
rs2151431064	1:8,029,388	G/A	—	likely benign
rs201258798	1:8,029,410	A/G	—	likely benign
rs367584305	1:8,029,430	C/T	—	uncertain significance
rs886046545	1:8,029,435	G/A	—	uncertain significance
rs2151431134	1:8,029,445	G/A	—	uncertain significance
rs11548937	1:8,029,446	C/T	—	likely benign
rs996949916	1:8,029,472	A/G	—	likely benign
rs147308281	1:8,029,482	A/G	—	benign
rs2641116	1:8,029,494	T/G	—	benign
rs2640906	1:8,029,509	G/A	—	benign
rs2641117	1:8,029,510	G/A	—	benign
rs372392694	1:8,029,511	A/G	—	likely benign
rs113745000	1:8,030,845	A/G	—	benign
rs6703670	1:8,030,856	A/G	—	benign
rs7534132	1:8,030,923	C/T	—	benign
rs2151432344	1:8,030,954	T/C	—	uncertain significance
rs2151432369	1:8,030,972	A/G	—	uncertain significance
rs1324468611	1:8,030,974	A/C	—	likely benign
rs1640452044	1:8,030,986	G/A	—	likely benign
rs71653619	1:8,030,994	A/G	—	likely benign
rs2527339559	1:8,031,001	C/T	—	likely benign
rs2151432401	1:8,031,003	T/C	—	likely pathogenic
rs368221790	1:8,031,010	C/T	—	likely benign
rs774005786	1:8,031,011	G/A	—	uncertain significance
rs2527339612	1:8,031,018	G/A	—	uncertain significance
rs1252815484	1:8,031,023	G/A	—	pathogenic
rs758620266	1:8,031,029	G/A	—	uncertain significance
rs1640453503	1:8,031,035	G/A	—	likely benign
rs389298	1:8,031,054	G/A	—	benign
rs161807	1:8,037,496	G/A	—	benign
rs72854880	1:8,037,664	A/G	—	benign
rs1485592083	1:8,037,692	C/A	—	likely benign
rs759770337	1:8,037,696	T/C	—	likely benign
rs72854882	1:8,037,698	A/G	—	benign
rs201706306	1:8,037,702	T/A	—	likely benign
rs757792657	1:8,037,714	C/T	—	uncertain significance
rs45577037	1:8,037,717	A/G	—	uncertain significance
rs2151436437	1:8,037,766	A/G	—	uncertain significance
rs1640614977	1:8,037,784	A/G	—	uncertain significance
rs398124657	1:8,037,788	G/C	—	uncertain significance
rs161802	1:8,042,826	G/A	—	—
rs72854897	1:8,044,724	C/T	—	benign
rs12076033	1:8,044,793	G/A	—	benign
rs2235733	1:8,044,905	T/C	—	benign
rs143947415	1:8,044,945	A/G	—	likely benign
rs1640786376	1:8,044,969	C/T	—	uncertain significance
rs140517273	1:8,044,973	G/A	—	likely benign
rs768782230	1:8,044,977	C/A	—	uncertain significance
rs375023875	1:8,044,980	G/A	—	uncertain significance
rs761919138	1:8,044,981	T/G	—	uncertain significance
rs74315352	1:8,044,990	A/C	missense variant	likely benign
rs368420490	1:8,044,992	G/A	—	uncertain significance
rs1472900688	1:8,045,004	A/G	—	likely pathogenic
rs2527375369	1:8,045,026	G/C	—	uncertain significance
rs74315354	1:8,045,031	G/A	missense variant	pathogenic
rs371514726	1:8,045,038	C/T	—	uncertain significance
rs28938172	1:8,045,041	T/C	missense variant	pathogenic
rs886046546	1:8,045,044	C/G	—	uncertain significance
rs71653621	1:8,045,045	A/G	—	conflicting classifications of pathogenicity

Showing 100 of 110 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.