TBC1D8B

TBC1 domain family member 8B

Summary

This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Known Variants156 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73531136	X:106,045,736	C/A	—	benign
rs2521506378	X:106,046,103	A/G	—	uncertain significance
rs1931072814	X:106,046,182	C/T	—	likely benign
rs756295158	X:106,046,186	G/C	—	uncertain significance
rs754093308	X:106,046,202	G/A	—	uncertain significance
rs12009983	X:106,061,790	A/G	—	benign
rs12010840	X:106,061,886	A/G	—	benign
rs6523896	X:106,061,924	G/A	—	benign
rs146981109	X:106,061,925	G/A	—	uncertain significance
rs2521551895	X:106,061,938	A/C	—	uncertain significance
rs748413985	X:106,061,952	C/T	—	pathogenic
rs375935319	X:106,061,953	G/A	—	uncertain significance
rs1200901251	X:106,061,986	A/C	—	uncertain significance
rs147207846	X:106,061,987	C/T	—	likely benign
rs753165771	X:106,064,101	A/C	—	likely benign
rs756459601	X:106,064,110	C/A	—	uncertain significance
rs2521557983	X:106,064,153	A/C	—	uncertain significance
rs369240583	X:106,064,236	C/T	—	likely benign
rs73531153	X:106,064,345	C/T	—	benign
rs2521561430	X:106,065,256	C/G	—	uncertain significance
rs775623397	X:106,065,267	C/T	—	likely pathogenic
rs141400138	X:106,065,273	G/A	—	uncertain significance
rs757881328	X:106,065,358	G/A	—	uncertain significance
rs483352744	X:106,065,374	T/C	—	uncertain significance
rs150021162	X:106,065,409	A/G	—	uncertain significance
rs374959449	X:106,065,418	T/C	—	uncertain significance
rs748366693	X:106,065,422	G/A	—	likely benign
rs776431738	X:106,065,427	C/T	—	uncertain significance
rs1188249089	X:106,065,446	A/G	—	likely benign
rs775315451	X:106,065,451	T/C	—	likely benign
rs6523898	X:106,066,391	A/C	—	benign
rs1931744501	X:106,066,454	A/C	—	uncertain significance
rs1931745837	X:106,066,489	A/T	—	uncertain significance
rs2521566839	X:106,066,523	G/A	—	likely benign
rs748241860	X:106,066,533	G/A	—	uncertain significance
rs1931748592	X:106,066,574	G/A	—	likely benign
rs761410195	X:106,066,607	G/C	—	likely pathogenic
rs140106583	X:106,066,611	G/T	—	conflicting classifications of pathogenicity
rs1283659826	X:106,066,672	A/G	—	uncertain significance
rs1183009900	X:106,066,691	C/G	—	likely benign
rs1931832724	X:106,069,269	A/G	—	likely benign
rs1602413491	X:106,069,304	T/C	—	likely pathogenic
rs143809516	X:106,069,314	C/G	—	likely benign
rs2521577303	X:106,069,323	G/A	—	likely benign
rs757359870	X:106,069,350	C/A	—	uncertain significance
rs146869270	X:106,069,354	T/C	—	conflicting classifications of pathogenicity
rs149013803	X:106,069,357	G/A	—	benign
rs749688361	X:106,069,462	C/T	—	uncertain significance
rs1216159240	X:106,070,423	T/C	—	likely benign
rs775778269	X:106,070,450	C/T	—	likely benign
rs764471741	X:106,070,467	C/G	—	uncertain significance
rs140193069	X:106,070,473	G/A	—	uncertain significance
rs2521582591	X:106,070,487	A/G	—	uncertain significance
rs200064920	X:106,070,506	T/C	—	conflicting classifications of pathogenicity
rs146944790	X:106,070,515	T/A	—	uncertain significance
rs752393362	X:106,070,529	G/A	—	uncertain significance
rs757248924	X:106,070,546	A/G	—	likely benign
rs7057400	X:106,070,625	C/T	—	benign
rs12689287	X:106,081,003	G/A	intron variant	—
rs2521623500	X:106,082,533	T/A	—	uncertain significance
rs779481955	X:106,082,547	A/G	—	uncertain significance
rs2521623796	X:106,082,580	G/A	—	uncertain significance
rs111863866	X:106,082,584	T/C	—	uncertain significance
rs146006453	X:106,082,593	T/C	—	uncertain significance
rs1819535360	X:106,082,607	G/C	—	uncertain significance
rs1223251037	X:106,082,650	T/G	—	uncertain significance
rs199699956	X:106,082,695	A/C	—	likely benign
rs750341466	X:106,082,702	T/C	—	likely benign
rs73531167	X:106,083,245	A/G	—	benign
rs56825776	X:106,083,304	A/G	—	benign
rs772540800	X:106,083,307	G/A	—	pathogenic
rs73531168	X:106,083,331	A/G	—	benign
rs148100082	X:106,083,410	C/T	—	uncertain significance
rs370734738	X:106,083,418	G/A	—	conflicting classifications of pathogenicity
rs754467229	X:106,083,435	C/T	—	likely benign
rs41304488	X:106,083,436	G/A	—	benign
rs1932284460	X:106,083,977	G/T	—	uncertain significance
rs1463289330	X:106,084,002	T/A	—	uncertain significance
rs1322282118	X:106,084,004	C/T	—	uncertain significance
rs780095720	X:106,084,008	G/A	—	uncertain significance
rs779137693	X:106,084,029	C/A	—	uncertain significance
rs1932286964	X:106,084,035	A/G	—	uncertain significance
rs748451871	X:106,084,043	A/G	—	uncertain significance
rs1205320241	X:106,084,067	G/T	—	uncertain significance
rs775069953	X:106,084,098	A/G	—	uncertain significance
rs111410539	X:106,086,103	A/G	intron variant	—
rs1932503540	X:106,091,441	T/C	—	uncertain significance
rs1438650886	X:106,091,480	T/C	—	uncertain significance
rs1440149033	X:106,091,482	G/T	—	uncertain significance
rs750689123	X:106,091,483	T/C	—	uncertain significance
rs755544165	X:106,091,502	G/A	—	uncertain significance
rs758480840	X:106,091,523	T/C	—	benign
rs2340507	X:106,092,481	A/G	—	likely benign
rs376661971	X:106,093,311	C/A	—	uncertain significance
rs777279942	X:106,093,375	T/A	—	uncertain significance
rs2521663023	X:106,093,413	G/A	—	uncertain significance
rs1396136655	X:106,093,447	C/T	—	uncertain significance
rs140854756	X:106,093,480	A/G	—	uncertain significance
rs767799462	X:106,093,515	G/A	—	uncertain significance
rs2521663724	X:106,093,552	A/G	—	likely benign

Showing 100 of 156 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.