EGF

epidermal growth factor

Summary

This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

Known Variants466 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3756261	4:110,832,306	T/C	upstream gene variant	—
rs11568835	4:110,832,670	G/A	upstream gene variant	—
rs56399752	4:110,834,045	G/A	—	likely benign
rs35397046	4:110,834,068	G/A	—	likely benign
rs4444903	4:110,834,110	A/G	regulatory region variant	benign
rs961372411	4:110,834,131	C/G	—	uncertain significance
rs11568847	4:110,834,150	C/G	—	uncertain significance
rs886058988	4:110,834,209	G/C	—	uncertain significance
rs1735992492	4:110,834,219	T/C	—	uncertain significance
rs901572263	4:110,834,222	T/G	—	uncertain significance
rs886058989	4:110,834,227	G/T	—	uncertain significance
rs1052738578	4:110,834,264	G/C	—	uncertain significance
rs543779474	4:110,834,352	A/G	—	uncertain significance
rs886058990	4:110,834,365	A/C	—	uncertain significance
rs11568848	4:110,834,390	G/A	—	likely benign
rs149835886	4:110,834,414	A/G	—	likely benign
rs191144589	4:110,834,432	C/T	—	uncertain significance
rs758291999	4:110,834,497	G/A	—	likely benign
rs11568849	4:110,834,537	A/C	—	likely benign
rs200394315	4:110,834,538	G/C	—	uncertain significance
rs767958539	4:110,834,548	T/C	—	conflicting classifications of pathogenicity
rs544759335	4:110,834,590	C/T	—	likely benign
rs201626324	4:110,834,591	G/A	—	uncertain significance
rs756159447	4:110,834,608	T/A	—	likely benign
rs771203997	4:110,834,627	T/C	—	likely benign
rs147930926	4:110,834,631	A/G	—	likely benign
rs746259663	4:110,834,632	T/A	—	uncertain significance
rs11568850	4:110,834,647	G/T	—	likely benign
rs11568853	4:110,834,725	T/C	—	likely benign
rs11098053	4:110,834,920	A/G	—	likely benign
rs76740618	4:110,840,696	G/A	intron variant	—
rs2024114	4:110,842,884	A/C	regulatory region variant	—
rs62327604	4:110,843,140	T/C	intron variant	—
rs12506702	4:110,845,763	A/G	intron variant	—
rs76469933	4:110,845,846	G/T	intron variant	—
rs78642509	4:110,847,724	A/G	intron variant	—
rs10025078	4:110,848,652	A/T	—	—
rs10025276	4:110,848,794	A/G	intron variant	—
rs3775967	4:110,852,459	A/G	intron variant	—
rs3796948	4:110,854,431	G/T	—	—
rs2347137	4:110,855,555	T/A	—	—
rs148833685	4:110,859,180	G/A	intron variant	—
rs11568884	4:110,861,916	T/C	—	likely benign
rs10029654	4:110,861,927	G/A	—	benign
rs10029765	4:110,862,023	G/A	—	benign
rs558295228	4:110,862,108	C/T	—	uncertain significance
rs367667834	4:110,862,166	C/A	—	likely benign
rs11568885	4:110,862,238	C/T	—	benign
rs2545708343	4:110,862,262	A/G	—	likely benign
rs1741856047	4:110,862,290	T/C	—	uncertain significance
rs11568886	4:110,862,363	C/T	—	benign
rs2545715097	4:110,864,395	A/G	—	uncertain significance
rs2545715105	4:110,864,396	A/G	—	uncertain significance
rs2126007091	4:110,864,400	G/T	—	likely benign
rs922894532	4:110,864,423	T/G	—	uncertain significance
rs1215651314	4:110,864,495	G/A	—	uncertain significance
rs9991664	4:110,864,533	C/T	—	benign
rs199526360	4:110,864,535	C/T	—	likely benign
rs1742252910	4:110,864,538	T/C	—	likely benign
rs150361543	4:110,864,546	G/A	—	uncertain significance
rs138035348	4:110,864,547	T/G	—	uncertain significance
rs763112495	4:110,864,558	A/G	—	uncertain significance
rs755316861	4:110,864,587	G/A	—	uncertain significance
rs11568898	4:110,864,723	G/A	—	benign
rs11098055	4:110,864,831	G/A	—	likely benign
rs28684716	4:110,864,858	G/A	—	benign
rs369090159	4:110,865,040	A/G	—	likely benign
rs28553469	4:110,865,044	G/C	—	benign
rs1207846625	4:110,865,046	T/A	—	uncertain significance
rs764312466	4:110,865,050	G/A	—	conflicting classifications of pathogenicity
rs988286670	4:110,865,062	G/A	—	uncertain significance
rs1310247090	4:110,865,076	G/A	—	likely benign
rs373552129	4:110,865,126	G/A	—	uncertain significance
rs199600172	4:110,865,127	G/A	—	likely benign
rs1431005496	4:110,865,143	T/C	—	uncertain significance
rs1198880581	4:110,865,147	A/G	—	uncertain significance
rs144437729	4:110,865,150	G/C	—	uncertain significance
rs759723051	4:110,865,160	C/T	—	likely benign
rs1251037371	4:110,865,174	G/T	—	uncertain significance
rs200702456	4:110,865,208	T/C	—	likely benign
rs2545718409	4:110,865,209	A/G	—	uncertain significance
rs1232857341	4:110,865,219	C/A	—	uncertain significance
rs374147711	4:110,865,236	C/T	—	likely benign
rs10470911	4:110,865,271	T/G	—	benign
rs11568901	4:110,865,316	G/A	—	likely benign
rs11568902	4:110,865,366	G/A	—	benign
rs11098056	4:110,865,378	G/T	—	benign
rs11568903	4:110,865,432	A/G	—	benign
rs11568904	4:110,865,465	A/G	—	benign
rs11568905	4:110,865,468	A/G	—	benign
rs11568906	4:110,865,485	T/C	—	benign
rs11568907	4:110,865,487	C/T	—	benign
rs7680062	4:110,865,546	T/G	—	benign
rs4698755	4:110,866,178	A/C	—	benign
rs370617801	4:110,866,218	T/A	—	likely benign
rs1742606306	4:110,866,233	A/G	—	uncertain significance
rs763686145	4:110,866,252	T/C	—	uncertain significance
rs11568911	4:110,866,260	G/C	—	likely benign
rs757131048	4:110,866,263	C/T	—	uncertain significance
rs955232184	4:110,866,264	G/A	—	uncertain significance

Showing 100 of 466 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.