TRIOBP

TRIO and F-actin binding protein

Summary

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

Known Variants767 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs116432556	22:38,097,184	G/C	—	likely benign
rs12484441	22:38,097,359	C/G	—	benign
rs779160270	22:38,097,370	A/G	—	uncertain significance
rs1235885486	22:38,097,413	A/G	—	uncertain significance
rs374228600	22:38,097,436	C/T	—	uncertain significance
rs981859593	22:38,097,465	G/A	—	likely benign
rs563986808	22:38,097,468	C/T	—	likely benign
rs876658035	22:38,097,483	C/G	—	uncertain significance
rs117561671	22:38,097,502	A/G	—	likely benign
rs73409450	22:38,097,738	T/A	—	benign
rs73409452	22:38,097,742	T/G	—	likely benign
rs62236745	22:38,106,108	C/T	—	benign
rs4821690	22:38,106,225	T/G	—	benign
rs150572051	22:38,106,257	C/T	—	likely benign
rs4821691	22:38,106,259	A/T	—	benign
rs188617116	22:38,106,286	C/T	—	likely benign
rs115587759	22:38,106,360	G/A	—	likely benign
rs73409461	22:38,106,379	G/T	—	likely benign
rs145499943	22:38,106,399	C/T	—	likely benign
rs781452420	22:38,106,422	A/T	—	uncertain significance
rs1555894553	22:38,106,437	C/T	—	uncertain significance
rs1569034190	22:38,106,450	C/G	—	likely pathogenic
rs147691840	22:38,106,473	G/A	—	uncertain significance
rs775848908	22:38,106,476	C/G	—	uncertain significance
rs369119867	22:38,106,482	C/T	—	likely pathogenic
rs200529550	22:38,106,521	A/G	—	conflicting classifications of pathogenicity
rs776107623	22:38,106,522	C/T	—	uncertain significance
rs2145819204	22:38,106,550	A/T	—	likely benign
rs1221426849	22:38,106,556	C/G	—	likely benign
rs1923184854	22:38,106,577	G/A	—	uncertain significance
rs144572916	22:38,106,693	T/G	—	likely benign
rs79448959	22:38,109,105	C/T	—	benign
rs13055217	22:38,109,115	G/T	—	benign
rs200624451	22:38,109,206	T/C	—	likely benign
rs1276724019	22:38,109,207	C/T	—	likely benign
rs199646135	22:38,109,227	C/G	—	likely benign
rs876657592	22:38,109,235	A/G	—	likely benign
rs752612856	22:38,109,263	G/A	—	likely benign
rs745434873	22:38,109,290	G/A	—	uncertain significance
rs201843208	22:38,109,325	C/A	—	likely benign
rs200701262	22:38,109,327	T/C	—	likely benign
rs200112121	22:38,109,343	C/T	—	likely benign
rs267606244	22:38,109,344	G/A	—	uncertain significance
rs144634857	22:38,109,353	G/A	—	likely benign
rs757070140	22:38,109,357	C/G	—	uncertain significance
rs201008196	22:38,109,371	A/G	—	conflicting classifications of pathogenicity
rs1923358356	22:38,109,395	G/A	—	uncertain significance
rs769860248	22:38,109,408	C/T	—	uncertain significance
rs762955207	22:38,109,417	T/C	—	uncertain significance
rs4820299	22:38,110,450	C/T	intron variant	—
rs150170242	22:38,111,499	G/A	—	likely benign
rs1026267701	22:38,111,758	C/T	—	likely benign
rs188030007	22:38,111,790	G/T	—	likely benign
rs368119524	22:38,111,796	G/A	—	conflicting classifications of pathogenicity
rs540459171	22:38,111,810	G/C	—	likely benign
rs116448422	22:38,111,817	C/A	—	likely benign
rs780301261	22:38,111,823	C/T	—	likely benign
rs772811639	22:38,111,838	G/A	—	likely benign
rs773013563	22:38,111,849	G/C	—	uncertain significance
rs1318164921	22:38,111,880	G/T	—	uncertain significance
rs201532915	22:38,111,885	C/T	—	conflicting classifications of pathogenicity
rs143157673	22:38,111,897	C/T	—	likely benign
rs200786015	22:38,111,900	G/C	—	uncertain significance
rs755203153	22:38,111,907	T/C	—	likely benign
rs376658402	22:38,111,959	G/T	—	likely benign
rs113817390	22:38,112,035	A/G	—	likely benign
rs8139083	22:38,112,225	C/T	—	benign
rs1006139	22:38,118,805	A/G	—	—
rs76340729	22:38,118,911	T/A	—	likely benign
rs142133988	22:38,119,166	C/T	—	likely benign
rs766809690	22:38,119,191	G/C	—	likely pathogenic
rs372631964	22:38,119,196	C/T	—	likely benign
rs201794404	22:38,119,197	G/A	—	conflicting classifications of pathogenicity
rs369377486	22:38,119,199	C/T	—	conflicting classifications of pathogenicity
rs752834637	22:38,119,200	G/A	—	uncertain significance
rs2518171466	22:38,119,201	G/A	—	uncertain significance
rs376243226	22:38,119,209	C/T	—	uncertain significance
rs745717499	22:38,119,210	G/A	—	uncertain significance
rs12628603	22:38,119,213	A/G	—	benign
rs112728182	22:38,119,214	C/T	—	benign
rs768305451	22:38,119,216	C/T	—	uncertain significance
rs186143100	22:38,119,224	C/T	—	uncertain significance
rs371064828	22:38,119,266	C/T	—	uncertain significance
rs375017496	22:38,119,267	G/A	—	uncertain significance
rs2145831991	22:38,119,269	C/T	—	uncertain significance
rs144995033	22:38,119,272	C/T	—	conflicting classifications of pathogenicity
rs372079149	22:38,119,273	G/A	—	likely benign
rs1362976718	22:38,119,295	C/G	—	likely benign
rs140901235	22:38,119,378	C/A	—	conflicting classifications of pathogenicity
rs190463138	22:38,119,380	C/T	—	uncertain significance
rs754785011	22:38,119,381	G/A	—	uncertain significance
rs1569040134	22:38,119,389	C/T	—	likely pathogenic
rs563131158	22:38,119,400	C/T	—	likely benign
rs2518172010	22:38,119,439	C/G	—	likely benign
rs118204028	22:38,119,452	C/T	stop gained	pathogenic
rs2145832215	22:38,119,478	C/T	—	likely benign
rs191880936	22:38,119,514	G/T	—	uncertain significance
rs201693690	22:38,119,527	G/T	—	conflicting classifications of pathogenicity
rs145588841	22:38,119,528	C/T	—	likely benign
rs1923945365	22:38,119,578	A/G	—	uncertain significance

Showing 100 of 767 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.