CENPF

centromere protein F

Summary

This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

Known Variants566 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7366282	1:214,779,427	A/C	splice region variant	—
rs115736692	1:214,786,745	C/A	—	likely benign
rs12405890	1:214,786,800	T/C	—	likely benign
rs573583284	1:214,787,122	A/C	—	uncertain significance
rs2070064	1:214,787,130	A/G	—	benign
rs564086731	1:214,787,134	C/T	—	uncertain significance
rs138690504	1:214,787,137	A/G	—	uncertain significance
rs1251142718	1:214,787,141	G/C	—	uncertain significance
rs774269116	1:214,787,144	C/G	—	uncertain significance
rs1190122264	1:214,787,163	G/T	—	uncertain significance
rs1420484176	1:214,787,171	G/T	—	uncertain significance
rs753728550	1:214,787,182	A/C	—	uncertain significance
rs754853353	1:214,787,189	A/G	—	uncertain significance
rs746591240	1:214,787,214	T/G	—	uncertain significance
rs987822149	1:214,787,224	A/G	—	uncertain significance
rs749707391	1:214,787,229	C/T	—	likely benign
rs2528330185	1:214,787,240	T/C	—	uncertain significance
rs113840975	1:214,787,314	G/C	—	likely benign
rs111512847	1:214,787,430	A/G	—	benign
rs12734998	1:214,787,527	G/C	—	likely benign
rs17023274	1:214,787,543	A/G	—	benign
rs148672580	1:214,787,559	A/G	—	likely benign
rs113083112	1:214,787,560	C/T	—	likely benign
rs1657291771	1:214,788,172	T/A	—	uncertain significance
rs371576824	1:214,788,215	A/G	—	uncertain significance
rs199586456	1:214,788,247	C/T	—	likely benign
rs1054758054	1:214,788,293	A/G	—	uncertain significance
rs1400491677	1:214,788,299	A/G	—	uncertain significance
rs746096702	1:214,788,312	G/A	—	likely benign
rs1200292436	1:214,788,317	G/A	—	uncertain significance
rs139296855	1:214,788,324	G/A	—	likely benign
rs1571695605	1:214,788,334	A/C	—	uncertain significance
rs144231687	1:214,788,342	A/G	—	likely benign
rs2102531522	1:214,788,358	C/G	—	uncertain significance
rs41303281	1:214,788,427	C/T	—	likely benign
rs41304093	1:214,788,583	C/T	—	likely benign
rs2807665	1:214,791,612	C/G	—	benign
rs76510073	1:214,791,650	T/C	—	likely benign
rs2102535843	1:214,791,902	T/C	—	likely benign
rs371726811	1:214,791,945	A/G	—	uncertain significance
rs373652018	1:214,791,952	G/T	—	likely benign
rs145538443	1:214,791,963	A/G	—	uncertain significance
rs1453561610	1:214,792,000	T/C	—	likely benign
rs2528342398	1:214,792,011	C/T	—	uncertain significance
rs2292378	1:214,792,249	G/T	—	likely benign
rs11120367	1:214,792,280	A/G	—	benign
rs2292377	1:214,792,349	C/G	—	likely benign
rs755220921	1:214,792,476	C/T	—	likely benign
rs199800194	1:214,792,522	C/T	—	pathogenic
rs760951737	1:214,792,523	G/A	—	uncertain significance
rs61732049	1:214,792,552	T/C	—	benign
rs765373633	1:214,792,562	A/C	—	uncertain significance
rs757152620	1:214,792,579	G/T	—	likely benign
rs111639017	1:214,792,826	A/G	—	likely benign
rs17023277	1:214,793,813	G/A	—	benign
rs59561763	1:214,793,868	G/A	—	likely benign
rs376767238	1:214,793,996	A/C	splice region variant	pathogenic
rs752882447	1:214,794,001	G/A	—	uncertain significance
rs141779900	1:214,794,043	A/G	—	uncertain significance
rs2528346958	1:214,794,047	C/T	—	uncertain significance
rs148125567	1:214,794,049	C/T	—	uncertain significance
rs747815581	1:214,794,050	G/A	—	uncertain significance
rs141892982	1:214,794,059	C/A	—	uncertain significance
rs1458854763	1:214,794,065	C/T	—	uncertain significance
rs369501655	1:214,794,067	T/C	—	uncertain significance
rs201702404	1:214,794,075	C/T	—	likely benign
rs755981182	1:214,794,111	A/G	—	likely benign
rs372789993	1:214,794,119	C/A	—	uncertain significance
rs2528347336	1:214,794,150	T/C	—	likely benign
rs377444877	1:214,794,190	C/A	—	likely benign
rs147545168	1:214,794,191	G/A	—	uncertain significance
rs1657488095	1:214,794,245	C/G	—	uncertain significance
rs1278867592	1:214,794,276	A/T	—	uncertain significance
rs114104425	1:214,794,279	G/A	—	likely benign
rs80220869	1:214,794,526	C/G	—	benign
rs79383566	1:214,794,556	T/A	—	benign
rs115870166	1:214,794,595	G/A	—	likely benign
rs116709782	1:214,795,307	G/T	—	likely benign
rs17023281	1:214,795,454	C/T	—	benign
rs748669126	1:214,795,456	C/T	—	likely benign
rs925223168	1:214,795,475	G/A	—	uncertain significance
rs1657523717	1:214,795,501	T/G	—	uncertain significance
rs140399039	1:214,795,521	T/C	—	uncertain significance
rs370955098	1:214,795,544	A/T	—	uncertain significance
rs773879279	1:214,795,604	T/C	—	uncertain significance
rs6697155	1:214,795,611	A/G	—	conflicting classifications of pathogenicity
rs372173425	1:214,795,615	G/A	—	likely benign
rs1375341463	1:214,795,620	C/T	—	uncertain significance
rs2528351348	1:214,795,624	G/A	—	uncertain significance
rs117507465	1:214,795,639	G/A	—	likely benign
rs74140215	1:214,795,794	C/T	—	benign
rs17023282	1:214,795,899	T/C	—	benign
rs11120368	1:214,802,299	C/T	—	benign
rs138247858	1:214,802,390	A/G	—	uncertain significance
rs1571706279	1:214,802,401	G/T	—	likely pathogenic
rs199872430	1:214,802,410	C/G	—	uncertain significance
rs756372832	1:214,802,419	T/A	—	uncertain significance
rs749543818	1:214,802,423	C/T	—	uncertain significance
rs2528366556	1:214,802,426	A/C	—	uncertain significance
rs114338555	1:214,802,465	G/A	—	benign

Showing 100 of 566 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.