PCM1

pericentriolar material 1

Summary

The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants212 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2087478:17,778,865T/Aupstream gene variant—
rs5331426558:17,792,849G/C——
rs4454228:17,793,093C/Gsplice region variant—
rs3698189828:17,793,175A/G—uncertain significance
rs12684440038:17,793,203G/T—uncertain significance
rs7813025008:17,794,658C/A—uncertain significance
rs12984063678:17,794,668C/T—uncertain significance
rs14787711178:17,794,848A/G—uncertain significance
rs7744282468:17,794,853C/G—uncertain significance
rs11827769228:17,794,859C/G—uncertain significance
rs7608492388:17,794,862C/T—uncertain significance
rs7642781748:17,794,863G/A—uncertain significance
rs2017768548:17,794,873C/G—uncertain significance
rs1179103308:17,795,630A/Tintron variant—
rs7556808778:17,796,253G/C—uncertain significance
rs15637008428:17,796,301G/T—uncertain significance
rs20611947618:17,796,336T/A—uncertain significance
rs7468257788:17,796,370A/G—uncertain significance
rs10460811388:17,796,400C/T—likely benign
rs11607246148:17,796,406G/A—uncertain significance
rs11752977098:17,796,412C/T—uncertain significance
rs11975555088:17,796,413A/C—likely benign
rs7585979538:17,797,299C/T—uncertain significance
rs9005256188:17,797,368C/T—uncertain significance
rs5751547718:17,799,513T/G——
rs22995878:17,800,769T/Gintron variant—
rs132762978:17,804,524C/G——
rs7769676028:17,804,707C/G—uncertain significance
rs20642180108:17,804,862G/A—uncertain significance
rs2087658:17,805,448T/Cintron variant—
rs7807216628:17,808,160G/A—uncertain significance
rs1509078958:17,808,205G/A—uncertain significance
rs12794955198:17,808,222C/T—uncertain significance
rs5717246588:17,808,223G/A—uncertain significance
rs24875444998:17,810,491C/T—uncertain significance
rs1907349998:17,810,518C/T—uncertain significance
rs5373237048:17,810,531G/C—uncertain significance
rs5565730198:17,810,545A/C—uncertain significance
rs1166201668:17,810,590G/C—likely benign
rs7698328578:17,810,617C/G—uncertain significance
rs3752740968:17,810,621A/G—uncertain significance
rs3757796018:17,812,996G/A—uncertain significance
rs2002597538:17,813,054A/G—likely benign
rs1120441228:17,813,068A/G—uncertain significance
rs3716913108:17,813,087C/T—uncertain significance
rs1995102398:17,813,106A/C—likely benign
rs7800144038:17,813,123G/A—uncertain significance
rs2011527048:17,813,148A/T—likely benign
rs14404442818:17,814,115A/G—uncertain significance
rs13788549688:17,814,129C/T—uncertain significance
rs7540523858:17,814,165T/A—uncertain significance
rs7575723178:17,814,166A/T—uncertain significance
rs7462814268:17,814,178C/T—uncertain significance
rs7476514478:17,814,225G/C—uncertain significance
rs7588623838:17,814,282A/G—uncertain significance
rs1141659328:17,814,769C/G—benign
rs3720561728:17,814,841A/G—uncertain significance
rs3764321438:17,814,853G/A—uncertain significance
rs343250178:17,814,924T/C—likely benign
rs3706927038:17,815,076A/G—uncertain significance
rs1856338018:17,815,104T/C—likely benign
rs3702801238:17,815,106A/T—uncertain significance
rs2018509358:17,815,107T/G—uncertain significance
rs1995506638:17,815,113G/C—uncertain significance
rs2005484988:17,815,114G/A—benign
rs7683050078:17,815,123G/A—uncertain significance
rs10443378718:17,815,134G/T—likely benign
rs20692471278:17,815,215G/C—uncertain significance
rs3718811148:17,815,232T/G—uncertain significance
rs3699083038:17,815,237G/A—uncertain significance
rs3764824188:17,815,263A/C—uncertain significance
rs13597000298:17,815,270G/C—uncertain significance
rs25361667468:17,815,273G/A—uncertain significance
rs20709367018:17,817,565A/C—uncertain significance
rs25362295438:17,817,580T/C—uncertain significance
rs1414050728:17,817,635A/G—uncertain significance
rs3700493108:17,817,640A/C—uncertain significance
rs1508147168:17,817,650A/T—likely benign
rs1381602818:17,817,710A/Gintron variant—
rs5301983738:17,817,826A/G—uncertain significance
rs5504724958:17,817,844A/G—uncertain significance
rs25362390578:17,817,868T/A—uncertain significance
rs7776256538:17,817,897C/G—uncertain significance
rs353141058:17,817,926A/G—benign
rs25362415048:17,817,945G/C—uncertain significance
rs7598577948:17,819,585A/G—likely benign
rs7565637888:17,819,610C/T—uncertain significance
rs25362939188:17,819,621C/T—uncertain significance
rs783851378:17,819,790G/Aintron variant—
rs25363242358:17,820,624G/C—uncertain significance
rs11593203648:17,820,631C/T—uncertain significance
rs7521028828:17,820,662G/C—uncertain significance
rs2021458468:17,820,728C/G—uncertain significance
rs7813056958:17,820,755A/G—uncertain significance
rs1818408008:17,822,073C/G—likely benign
rs345044078:17,822,137C/T—benign
rs1907748938:17,822,163G/A—uncertain significance
rs2021232218:17,822,208A/T—uncertain significance
rs20741215358:17,822,222T/C—uncertain significance
rs7455482968:17,822,226C/T—uncertain significance

Showing 100 of 212 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.