FGF12

fibroblast growth factor 12

Summary

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

Known Variants204 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1460922	3:191,861,521	A/G	—	benign
rs780659108	3:191,861,803	T/C	—	uncertain significance
rs752116921	3:191,861,805	G/C	—	uncertain significance
rs2473889640	3:191,861,829	C/A	—	uncertain significance
rs2473889647	3:191,861,831	A/C	—	uncertain significance
rs2473889655	3:191,861,833	T/C	—	uncertain significance
rs2473889678	3:191,861,838	G/A	—	uncertain significance
rs2108576388	3:191,861,853	C/T	—	uncertain significance
rs2473889796	3:191,861,860	T/A	—	uncertain significance
rs190025961	3:191,861,865	C/T	—	uncertain significance
rs1427870966	3:191,861,866	G/A	—	uncertain significance
rs1238614953	3:191,861,867	C/G	—	likely benign
rs1281566261	3:191,861,869	C/G	—	benign
rs1486938872	3:191,861,881	C/T	—	benign
rs769374802	3:191,861,889	T/G	—	uncertain significance
rs369115025	3:191,861,894	C/T	—	likely benign
rs368025154	3:191,861,895	G/A	—	uncertain significance
rs1392888891	3:191,861,913	C/A	—	uncertain significance
rs3732883	3:191,861,915	C/T	—	benign
rs771839343	3:191,861,933	C/T	—	likely benign
rs12498120	3:191,862,200	C/G	—	benign
rs2046918	3:191,887,975	G/A	—	benign
rs66487531	3:191,887,998	G/C	—	benign
rs6791980	3:191,888,030	C/T	—	benign
rs11716735	3:191,888,065	C/T	—	benign
rs10707528	3:191,888,082	A/G	—	benign
rs76670651	3:191,888,104	T/C	—	likely benign
rs2046917	3:191,888,123	C/G	—	benign
rs11716796	3:191,888,170	G/A	—	benign
rs777237999	3:191,888,228	C/T	—	likely benign
rs1043452157	3:191,888,252	A/G	—	likely benign
rs909281332	3:191,888,253	T/C	—	conflicting classifications of pathogenicity
rs866731108	3:191,888,260	C/T	—	likely benign
rs1318037698	3:191,888,271	G/A	—	conflicting classifications of pathogenicity
rs2108618634	3:191,888,290	C/T	—	likely benign
rs267599732	3:191,888,303	C/G	—	uncertain significance
rs2108618668	3:191,888,309	A/G	—	uncertain significance
rs2473964114	3:191,888,333	C/T	—	likely pathogenic
rs2108618733	3:191,888,349	G/A	—	uncertain significance
rs9862559	3:191,888,352	C/G	—	uncertain significance
rs1245258297	3:191,888,353	T/C	—	likely benign
rs768509717	3:191,888,366	C/T	—	uncertain significance
rs888792094	3:191,888,367	G/A	—	uncertain significance
rs1715496017	3:191,888,368	G/A	—	likely benign
rs2473964301	3:191,888,369	T/C	—	uncertain significance
rs1577199643	3:191,888,371	C/T	—	likely benign
rs374767052	3:191,888,373	G/A	—	likely benign
rs201017047	3:191,888,375	G/A	—	uncertain significance
rs2108618866	3:191,888,395	G/A	—	likely benign
rs2473964470	3:191,888,397	A/G	—	uncertain significance
rs2108618926	3:191,888,428	T/C	—	likely benign
rs1291475870	3:191,888,442	C/T	—	uncertain significance
rs79608878	3:191,888,452	G/A	—	benign
rs79176051	3:191,888,454	A/G	—	likely benign
rs756950393	3:191,888,455	A/G	—	benign
rs79006332	3:191,888,537	C/T	—	benign
rs75996617	3:191,888,570	A/G	—	benign
rs76499400	3:191,888,629	G/T	—	benign
rs76557545	3:191,888,684	C/G	—	benign
rs116376457	3:191,888,718	G/A	—	likely benign
rs76256349	3:191,888,722	C/T	—	benign
rs975121	3:191,897,218	G/A	intron variant	—
rs111783937	3:191,903,665	A/G	intron variant	—
rs75156321	3:191,909,148	A/G	intron variant	—
rs9836672	3:191,912,870	C/T	intron variant	—
rs11717284	3:191,925,200	T/C	—	—
rs112909442	3:192,052,942	G/A	—	likely benign
rs76527141	3:192,053,054	A/G	—	benign
rs115400941	3:192,053,115	C/T	—	benign
rs2108699577	3:192,053,138	C/T	—	likely benign
rs754984280	3:192,053,142	G/A	—	likely benign
rs2474335383	3:192,053,146	T/C	—	uncertain significance
rs200576975	3:192,053,150	T/C	—	likely benign
rs994793315	3:192,053,157	T/C	—	uncertain significance
rs2474335417	3:192,053,160	A/G	—	uncertain significance
rs1231565466	3:192,053,163	T/C	—	benign
rs769728469	3:192,053,164	A/G	—	likely benign
rs1160574242	3:192,053,165	G/A	—	likely benign
rs2474335490	3:192,053,167	C/T	—	uncertain significance
rs1176548712	3:192,053,181	G/A	—	likely benign
rs1416073662	3:192,053,191	G/A	—	benign
rs886124972	3:192,053,192	G/A	—	likely benign
rs1216354137	3:192,053,194	T/C	—	uncertain significance
rs200858435	3:192,053,214	G/A	—	conflicting classifications of pathogenicity
rs1352370070	3:192,053,215	C/T	—	uncertain significance
rs376292373	3:192,053,216	C/T	—	benign
rs777025456	3:192,053,219	T/C	—	likely benign
rs2108699844	3:192,053,221	C/T	—	uncertain significance
rs886039903	3:192,053,223	C/T	missense variant	pathogenic
rs969738682	3:192,053,228	G/A	—	likely benign
rs1553798675	3:192,053,230	C/T	—	pathogenic
rs750063556	3:192,053,231	C/T	—	likely benign
rs199832838	3:192,053,233	C/G	—	uncertain significance
rs201446852	3:192,053,234	G/A	—	likely benign
rs2474335935	3:192,053,235	G/A	—	likely benign
rs868409328	3:192,053,236	G/A	—	uncertain significance
rs765777284	3:192,053,244	T/C	—	conflicting classifications of pathogenicity
rs2474335999	3:192,053,249	G/T	—	likely benign
rs1186567683	3:192,053,251	G/A	—	likely benign
rs371917110	3:192,053,256	G/C	—	uncertain significance

Showing 100 of 204 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.