MUC4

mucin 4, cell surface associated

Summary

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

Known Variants170 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2641724	3:195,475,306	A/C	—	—
rs147505566	3:195,475,838	C/T	—	likely benign
rs375068067	3:195,477,689	G/T	—	—
rs2291654	3:195,477,713	G/C	—	—
rs2291653	3:195,477,715	C/T	intron variant	—
rs79428658	3:195,477,779	G/A	—	benign
rs115332872	3:195,477,787	C/T	—	benign
rs2291652	3:195,477,791	G/C	missense variant	—
rs182298170	3:195,477,854	C/T	—	likely benign
rs2291651	3:195,478,012	G/C	intron variant	—
rs151202432	3:195,481,169	C/G	—	likely benign
rs761452349	3:195,484,177	T/G	—	likely benign
rs2688525	3:195,485,231	G/A	intron variant	—
rs3103933	3:195,485,440	A/C	—	—
rs2246771	3:195,487,737	A/G	intron variant	—
rs187652903	3:195,487,768	C/T	—	likely benign
rs777991056	3:195,488,461	G/A	—	likely benign
rs141301810	3:195,489,103	G/A	—	likely benign
rs2550262	3:195,490,144	C/T	—	—
rs189235965	3:195,491,039	C/T	—	likely benign
rs145520860	3:195,497,135	C/T	—	likely benign
rs2550250	3:195,500,549	C/T	regulatory region variant	—
rs369426870	3:195,505,746	T/G	—	likely benign
rs372931109	3:195,505,767	G/A	—	likely benign
rs1235000910	3:195,505,791	A/T	—	likely benign
rs1333831368	3:195,505,794	T/G	—	likely benign
rs201251642	3:195,505,979	T/C	—	likely benign
rs202017381	3:195,506,005	A/C	—	likely benign
rs200261480	3:195,506,007	G/A	—	likely benign
rs1725962897	3:195,506,085	G/A	—	likely benign
rs74941663	3:195,506,091	A/C	—	benign
rs543675648	3:195,506,146	A/G	—	likely benign
rs866027921	3:195,506,172	G/A	—	likely benign
rs529024828	3:195,506,325	G/A	—	likely benign
rs1195957434	3:195,506,373	G/A	—	likely benign
rs749388240	3:195,506,379	T/C	—	likely benign
rs74573747	3:195,506,398	G/T	—	likely benign
rs369484841	3:195,506,437	C/T	—	likely benign
rs1223954324	3:195,506,438	T/C	—	likely benign
rs2474508726	3:195,506,448	A/T	—	likely benign
rs1428837694	3:195,506,454	G/C	—	likely benign
rs1726256013	3:195,506,457	G/A	—	likely benign
rs879565732	3:195,506,462	G/C	—	likely benign
rs1553868545	3:195,506,466	T/G	—	likely benign
rs199615212	3:195,506,469	G/A	—	likely benign
rs539240288	3:195,506,472	T/C	—	likely benign
rs1347912853	3:195,506,508	G/C	—	likely benign
rs1335410285	3:195,506,619	T/C	—	likely benign
rs189187463	3:195,506,838	G/A	—	likely benign
rs181544905	3:195,506,842	G/A	—	likely benign
rs748222141	3:195,506,861	A/C	—	likely benign
rs190624598	3:195,506,924	C/T	—	likely benign
rs199588013	3:195,506,963	C/G	—	likely benign
rs1303181501	3:195,507,195	T/C	—	likely benign
rs897641322	3:195,507,228	G/A	—	likely benign
rs764598126	3:195,507,252	G/A	—	likely benign
rs765604406	3:195,507,285	A/G	—	likely benign
rs143286669	3:195,507,347	G/T	—	likely benign
rs113115922	3:195,507,399	C/T	—	likely benign
rs1263082185	3:195,507,432	T/A	—	likely benign
rs1578225894	3:195,507,462	G/C	—	likely benign
rs776343959	3:195,507,492	G/A	—	likely benign
rs200882406	3:195,507,675	T/C	—	likely benign
rs199985629	3:195,507,721	A/G	—	likely benign
rs1322253143	3:195,507,744	A/C	—	likely benign
rs754808151	3:195,507,778	G/A	—	likely benign
rs1374394857	3:195,507,795	A/T	—	likely benign
rs370271914	3:195,507,798	G/A	—	likely benign
rs765920425	3:195,507,816	T/A	—	likely benign
rs747042645	3:195,507,831	G/A	—	likely benign
rs201826718	3:195,507,851	C/T	—	likely benign
rs992160481	3:195,507,897	G/A	—	likely benign
rs560809712	3:195,507,903	A/G	—	likely benign
rs756683164	3:195,507,906	G/A	—	likely benign
rs1374377791	3:195,507,936	A/T	—	likely benign
rs769759889	3:195,507,957	G/A	—	likely benign
rs1455370073	3:195,507,981	A/G	—	likely benign
rs199832619	3:195,508,086	G/C	—	likely benign
rs1195070757	3:195,508,231	A/G	—	likely benign
rs200780098	3:195,508,307	T/C	—	likely benign
rs425562	3:195,508,324	C/T	—	likely benign
rs200518413	3:195,508,336	C/T	—	likely benign
rs1300267437	3:195,508,344	A/T	—	likely benign
rs199592769	3:195,508,402	G/T	—	likely benign
rs543845438	3:195,508,410	G/T	—	likely benign
rs527497274	3:195,508,434	T/G	—	likely benign
rs200195189	3:195,508,482	T/G	—	likely benign
rs971718665	3:195,508,500	G/A	—	likely benign
rs62282476	3:195,508,516	G/T	—	likely benign
rs765465215	3:195,508,548	C/G	—	likely benign
rs1466562510	3:195,508,632	T/A	—	likely benign
rs1260213383	3:195,508,660	G/C	—	likely benign
rs1296392239	3:195,508,695	G/A	—	likely benign
rs1306647359	3:195,508,743	A/G	—	likely benign
rs1429543264	3:195,508,917	G/T	—	likely benign
rs199531700	3:195,509,102	G/C	—	likely benign
rs200749420	3:195,509,212	G/A	—	benign
rs748661580	3:195,509,382	G/C	—	likely benign
rs199992184	3:195,509,423	G/A	—	likely benign
rs1002931894	3:195,509,879	A/G	—	likely benign

Showing 100 of 170 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.