BCR

BCR activator of RhoGEF and GTPase

Summary

A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]

Known Variants138 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3761418	22:23,521,094	A/G	regulatory region variant	—
rs112064774	22:23,522,804	G/C	regulatory region variant	—
rs553187525	22:23,523,255	G/T	—	uncertain significance
rs138513724	22:23,523,285	G/T	—	benign
rs112539379	22:23,523,309	C/T	—	benign
rs770716239	22:23,523,356	A/G	—	uncertain significance
rs1262366952	22:23,523,361	C/T	—	uncertain significance
rs1301518214	22:23,523,363	G/T	—	likely benign
rs761816882	22:23,523,379	C/T	—	uncertain significance
rs1480845771	22:23,523,386	C/T	—	uncertain significance
rs1456587786	22:23,523,407	C/G	—	uncertain significance
rs926207387	22:23,523,428	C/T	—	uncertain significance
rs944890390	22:23,523,457	G/A	—	uncertain significance
rs746637123	22:23,523,491	C/T	—	uncertain significance
rs528616365	22:23,523,540	C/A	—	likely benign
rs200084105	22:23,523,542	G/T	—	uncertain significance
rs2517395570	22:23,523,601	G/A	—	uncertain significance
rs149933313	22:23,523,602	C/T	—	benign
rs148370562	22:23,523,644	G/A	—	benign
rs553473471	22:23,523,647	A/C	—	uncertain significance
rs1032744220	22:23,523,699	C/A	—	uncertain significance
rs781405173	22:23,523,711	G/A	—	likely benign
rs770002548	22:23,523,724	G/A	—	uncertain significance
rs1207372596	22:23,523,728	A/G	—	uncertain significance
rs147507158	22:23,523,753	C/T	—	likely benign
rs1194049111	22:23,523,775	A/T	—	uncertain significance
rs2517396167	22:23,523,802	G/A	—	uncertain significance
rs1441856766	22:23,523,832	C/T	—	uncertain significance
rs1025149753	22:23,523,838	T/A	—	uncertain significance
rs149768123	22:23,523,840	C/T	—	likely benign
rs779137125	22:23,523,841	C/T	—	uncertain significance
rs1601981403	22:23,523,861	C/T	—	likely benign
rs1601981524	22:23,523,891	C/T	—	likely benign
rs1027510281	22:23,523,904	C/T	—	uncertain significance
rs752884976	22:23,523,905	C/T	—	uncertain significance
rs376370758	22:23,523,907	C/T	—	uncertain significance
rs768480855	22:23,523,934	G/A	—	uncertain significance
rs765337010	22:23,523,965	C/A	—	uncertain significance
rs34437269	22:23,523,969	G/A	—	benign
rs74509390	22:23,523,972	G/A	—	benign
rs2517396739	22:23,523,978	G/C	—	uncertain significance
rs772929773	22:23,524,024	A/G	—	uncertain significance
rs760647932	22:23,524,025	A/G	—	uncertain significance
rs372716390	22:23,524,031	C/A	—	uncertain significance
rs2517396959	22:23,524,067	A/G	—	uncertain significance
rs35536098	22:23,524,069	C/T	—	benign
rs770723511	22:23,524,097	C/A	—	uncertain significance
rs2072271484	22:23,524,114	G/A	—	uncertain significance
rs1220804617	22:23,524,134	C/T	—	likely benign
rs370557490	22:23,524,209	C/G	—	likely benign
rs1569234250	22:23,524,232	T/C	—	uncertain significance
rs138970278	22:23,524,289	G/A	—	uncertain significance
rs775817981	22:23,524,296	C/T	—	uncertain significance
rs147089762	22:23,524,334	C/T	—	uncertain significance
rs56321828	22:23,524,386	C/G	—	likely benign
rs375509594	22:23,524,422	C/G	—	uncertain significance
rs2330364	22:23,529,518	T/A	regulatory region variant	—
rs2267012	22:23,535,982	G/A	intron variant	—
rs2267013	22:23,545,879	A/G	regulatory region variant	—
rs2267015	22:23,558,561	A/G	—	—
rs2156921	22:23,569,063	G/A	regulatory region variant	—
rs5751614	22:23,593,051	G/A	regulatory region variant	—
rs182865213	22:23,595,992	C/T	—	uncertain significance
rs56092735	22:23,595,996	C/T	—	benign
rs113693210	22:23,596,073	T/C	—	uncertain significance
rs55938746	22:23,596,074	T/C	—	likely benign
rs772780462	22:23,596,099	C/A	—	uncertain significance
rs139201536	22:23,596,134	G/A	—	benign
rs752427251	22:23,603,130	C/T	—	likely benign
rs372400075	22:23,603,563	G/A	—	uncertain significance
rs775101020	22:23,603,582	C/T	—	uncertain significance
rs200190160	22:23,603,636	A/G	—	uncertain significance
rs142514342	22:23,603,727	G/A	—	likely benign
rs201963169	22:23,610,645	C/A	—	benign
rs201470941	22:23,613,710	T/C	—	likely benign
rs770962732	22:23,615,298	C/T	—	uncertain significance
rs770061755	22:23,615,308	G/A	—	likely benign
rs758400230	22:23,615,842	G/T	—	likely benign
rs769154760	22:23,615,865	G/C	—	uncertain significance
rs1428771226	22:23,615,941	A/G	—	uncertain significance
rs201747848	22:23,626,157	C/A	—	benign
rs200849746	22:23,626,158	C/G	—	benign
rs1377292977	22:23,626,261	C/T	—	uncertain significance
rs1259370853	22:23,627,338	G/A	—	uncertain significance
rs369754347	22:23,627,347	A/T	—	uncertain significance
rs140504	22:23,627,369	A/G	missense variant	benign
rs761005301	22:23,627,376	C/G	—	uncertain significance
rs1602106154	22:23,629,411	G/A	—	likely benign
rs74407518	22:23,629,472	G/T	—	benign
rs55750699	22:23,630,313	T/C	—	benign
rs2517504064	22:23,630,320	G/C	—	uncertain significance
rs2073759760	22:23,631,787	C/A	—	uncertain significance
rs752530462	22:23,631,800	A/G	—	not provided
rs527236142	22:23,631,829	G/T	—	not provided
rs16999170	22:23,632,457	A/G	—	likely benign
rs75508658	22:23,632,522	G/A	—	benign
rs747460956	22:23,632,539	G/A	—	likely benign
rs527236143	22:23,632,568	T/A	—	not provided
rs78168495	22:23,633,111	G/A	—	likely benign
rs140245584	22:23,634,713	C/T	—	likely benign

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

Gene information from NCBI Gene. Variant classifications from ClinVar.