FLT3

fms related receptor tyrosine kinase 3

Summary

This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]

Known Variants208 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs181654932	13:28,576,916	A/G	downstream gene variant	—
rs3829382	13:28,577,688	G/T	3 prime UTR variant	—
rs142922228	13:28,578,192	C/T	—	benign
rs573326027	13:28,578,200	C/T	—	not provided
rs74041526	13:28,578,209	C/G	—	benign
rs56027115	13:28,578,213	C/T	—	benign
rs587778369	13:28,578,214	G/A	—	not provided
rs144397269	13:28,578,253	C/T	—	likely benign
rs138003347	13:28,578,283	G/A	—	likely benign
rs373674960	13:28,578,289	C/T	—	likely benign
rs149473536	13:28,578,290	G/A	—	uncertain significance
rs549943568	13:28,579,338	C/T	—	—
rs145998293	13:28,588,590	G/A	—	not provided
rs201025099	13:28,588,625	C/T	—	likely benign
rs4073630	13:28,589,267	T/C	—	benign
rs1478647878	13:28,589,331	A/G	—	uncertain significance
rs56300022	13:28,589,368	C/T	—	likely benign
rs9579142	13:28,589,495	C/G	—	benign
rs9579143	13:28,589,509	C/T	—	benign
rs4497507	13:28,589,662	C/G	—	benign
rs370459694	13:28,589,738	A/G	—	uncertain significance
rs762000524	13:28,589,758	A/G	—	likely benign
rs2500394044	13:28,589,764	C/G	—	uncertain significance
rs753361791	13:28,589,826	C/T	—	likely benign
rs74041530	13:28,590,142	C/G	—	benign
rs17086226	13:28,592,546	T/C	—	benign
rs2137622655	13:28,592,612	T/C	—	likely pathogenic
rs376588714	13:28,592,620	T/C	missense variant	—
rs1057519762	13:28,592,621	A/T	missense variant	—
rs749281035	13:28,592,622	G/C	missense variant	—
rs772061268	13:28,592,624	T/G	missense variant	—
rs991132188	13:28,592,629	T/C	missense variant	—
rs121913232	13:28,592,637	G/C	missense variant	—
rs1057520023	13:28,592,638	A/T	missense variant	—
rs1057519726	13:28,592,639	T/A	missense variant	—
rs121913487	13:28,592,640	A/T	missense variant	pathogenic
rs121913486	13:28,592,640	—	—	pathogenic
rs121909646	13:28,592,641	T/A	missense variant	pathogenic
rs121913488	13:28,592,642	C/T	missense variant	pathogenic
rs2137623424	13:28,592,663	A/G	—	uncertain significance
rs369177963	13:28,592,697	G/A	—	likely benign
rs141860068	13:28,592,706	G/A	—	likely benign
rs73436958	13:28,592,913	C/T	—	benign
rs61946325	13:28,597,187	C/T	—	benign
rs73436965	13:28,597,359	C/T	—	benign
rs150603645	13:28,597,490	C/T	—	benign
rs201232010	13:28,597,569	T/A	—	uncertain significance
rs9512982	13:28,597,839	G/A	—	benign
rs12427992	13:28,598,825	T/C	—	benign
rs148592477	13:28,599,077	C/G	—	not provided
rs76080105	13:28,599,094	T/C	intron variant	—
rs2491244	13:28,599,914	G/A	intron variant	—
rs1593231074	13:28,601,227	G/A	—	likely benign
rs747026657	13:28,601,233	T/C	—	likely benign
rs2500451724	13:28,601,306	T/G	—	uncertain significance
rs1057519764	13:28,601,359	A/T	missense variant	—
rs1057519765	13:28,601,373	T/C	missense variant	—
rs9512985	13:28,601,621	C/T	—	benign
rs61944199	13:28,601,651	T/C	—	benign
rs79566936	13:28,601,994	G/A	—	benign
rs61944200	13:28,602,256	C/T	—	benign
rs75580865	13:28,602,292	T/C	—	benign
rs199906407	13:28,602,318	A/G	—	not provided
rs369333276	13:28,602,322	T/C	—	likely benign
rs1057519766	13:28,602,340	G/T	missense variant	—
rs1057519767	13:28,602,342	T/C	missense variant	—
rs748106520	13:28,602,347	A/G	—	uncertain significance
rs1367367961	13:28,602,354	C/T	—	uncertain significance
rs1057520026	13:28,602,381	T/G	missense variant	—
rs1057519768	13:28,602,416	T/C	missense variant	—
rs12427653	13:28,602,604	T/C	—	benign
rs61944702	13:28,607,710	G/C	—	benign
rs2491222	13:28,607,916	T/A	—	benign
rs2491223	13:28,607,989	T/G	—	benign
rs200929631	13:28,608,016	T/C	—	likely benign
rs544651635	13:28,608,040	G/A	—	likely benign
rs1057519769	13:28,608,111	C/A	missense variant	—
rs61729139	13:28,608,241	A/G	—	benign
rs1057520021	13:28,608,276	A/G	missense variant	—
rs1057520025	13:28,608,281	A/C	missense variant	—
rs115466624	13:28,608,283	G/A	—	benign
rs1057520024	13:28,608,284	T/A	missense variant	—
rs1057520043	13:28,608,285	A/C	missense variant	—
rs1057520022	13:28,608,320	A/G	missense variant	—
rs121913491	13:28,608,341	T/A	missense variant	likely pathogenic
rs1208575764	13:28,608,342	A/G	—	likely pathogenic
rs34374211	13:28,608,459	T/C	—	benign
rs35958982	13:28,608,473	C/T	—	benign
rs2500492147	13:28,608,520	T/C	—	likely benign
rs2491224	13:28,608,811	T/G	—	benign
rs2491225	13:28,609,396	T/C	—	benign
rs2491226	13:28,609,399	G/C	—	benign
rs111404906	13:28,609,624	T/C	—	likely benign
rs1419038234	13:28,609,625	G/A	—	likely benign
rs58490213	13:28,609,651	C/G	—	benign
rs202109868	13:28,609,710	T/C	—	likely benign
rs1160891524	13:28,609,717	A/T	—	uncertain significance
rs141942072	13:28,609,751	C/A	—	uncertain significance
rs149057582	13:28,609,806	T/G	—	likely benign
rs2491227	13:28,609,825	A/G	—	benign

Showing 100 of 208 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.