PLTP

phospholipid transfer protein

Summary

The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants121 total

rsidPosition (GRCh37)AllelesClassClinVar
rs251545203320:44,527,604G/A—likely benign
rs3488164620:44,527,616C/T—likely benign
rs214582645920:44,527,629G/C—uncertain significance
rs14766481920:44,527,647A/G—uncertain significance
rs251545253420:44,527,720G/C—likely benign
rs251545362820:44,528,106G/A—uncertain significance
rs89620788320:44,528,110C/T—likely benign
rs13971028420:44,528,116C/G—benign
rs76691779420:44,528,117A/G—uncertain significance
rs37228003220:44,528,126A/C—uncertain significance
rs75297212920:44,528,153A/T—uncertain significance
rs74570757620:44,528,165C/T—uncertain significance
rs130074369820:44,528,177T/G—uncertain significance
rs37003556820:44,528,184G/T—likely benign
rs14564211520:44,528,279C/T—uncertain significance
rs76007769920:44,528,284A/G—uncertain significance
rs76796044220:44,528,299T/A—uncertain significance
rs145594494320:44,528,318G/T—uncertain significance
rs76436272020:44,528,328G/C—likely benign
rs117367934420:44,528,332G/A—likely benign
rs19018654620:44,528,342G/A—benign
rs75475720820:44,528,455A/C—likely benign
rs251545541020:44,528,470C/A—uncertain significance
rs147266266820:44,528,479A/T—uncertain significance
rs122758021020:44,528,517C/G—uncertain significance
rs77846305420:44,528,521C/T—likely benign
rs77857177420:44,530,896G/A—likely benign
rs1156965220:44,530,900G/C—benign
rs14409927720:44,530,908G/A—likely benign
rs36881060120:44,530,910G/A—uncertain significance
rs14650061620:44,530,923C/T—likely benign
rs134521285420:44,530,937T/C—uncertain significance
rs37304355720:44,530,942C/T—uncertain significance
rs606590320:44,530,943G/A—benign
rs75378650920:44,530,944G/A—likely benign
rs14471077220:44,530,966C/T—uncertain significance
rs14818858820:44,530,967G/A—uncertain significance
rs57181345320:44,530,970C/T—uncertain significance
rs19310009520:44,531,063A/T—likely benign
rs37676681720:44,531,074C/T—uncertain significance
rs251546016520:44,531,127G/A—likely benign
rs208319635720:44,531,135T/A—uncertain significance
rs1156965120:44,531,139G/A—benign
rs37731737620:44,531,152G/A—uncertain significance
rs251546024620:44,531,155A/C—uncertain significance
rs57768493520:44,531,170G/A—uncertain significance
rs75296760820:44,531,199G/A—likely benign
rs20002281220:44,531,203C/T—uncertain significance
rs37377293020:44,531,218A/G—uncertain significance
rs36814829520:44,533,427G/A—likely benign
rs19985570120:44,533,440A/G—uncertain significance
rs76219562920:44,533,470C/T—uncertain significance
rs13850413420:44,533,474G/A—benign
rs14390504520:44,533,490G/A—benign
rs54054800820:44,533,582T/C—likely benign
rs14727989020:44,533,584G/C—uncertain significance
rs147621135420:44,533,592C/T—uncertain significance
rs208322562520:44,533,613C/T—uncertain significance
rs6173105920:44,533,614C/T—likely benign
rs14227728120:44,533,615G/A—uncertain significance
rs5612698020:44,533,618C/T—likely benign
rs13919755720:44,533,631C/G—uncertain significance
rs214583534020:44,533,666A/T—uncertain significance
rs74964963120:44,533,699G/A—uncertain significance
rs36775623420:44,533,711C/T—uncertain significance
rs208322701020:44,533,713G/C—uncertain significance
rs130530356320:44,533,718G/A—uncertain significance
rs14103586320:44,533,731C/T—likely benign
rs135354080120:44,533,738G/T—uncertain significance
rs606590420:44,534,651G/Aregulatory region variant—
rs214583676820:44,534,932G/C—uncertain significance
rs37098315820:44,534,981C/G—uncertain significance
rs74702672420:44,534,982G/A—likely benign
rs77541453320:44,534,996G/A—uncertain significance
rs37052131320:44,536,314A/G—benign
rs77185370120:44,536,317C/T—likely benign
rs14344826320:44,536,333G/C—uncertain significance
rs138103819920:44,536,341G/C—uncertain significance
rs55816828420:44,536,365C/T—likely benign
rs37677931720:44,536,366G/A—uncertain significance
rs222945220:44,536,383G/A—benign
rs251546980820:44,536,387G/C—uncertain significance
rs20029013920:44,536,460C/T—benign
rs13846122020:44,536,492G/A—likely benign
rs94096402220:44,536,494G/A—uncertain significance
rs37572281220:44,536,500G/A—uncertain significance
rs131561740120:44,536,539C/A—uncertain significance
rs55929479720:44,538,175C/T—likely benign
rs75051436120:44,538,176G/A—uncertain significance
rs14401658220:44,538,177C/T—uncertain significance
rs54773093620:44,538,178G/A—likely benign
rs75731428220:44,538,201G/C—uncertain significance
rs14302013920:44,538,235G/A—likely benign
rs20077765120:44,538,242C/T—likely benign
rs13880755120:44,538,243G/A—uncertain significance
rs37045186420:44,538,245G/C—uncertain significance
rs75989826120:44,538,250C/T—likely benign
rs1156963620:44,538,269G/T—benign
rs1154424420:44,538,271C/T—benign
rs75103112020:44,538,285A/C—uncertain significance

Showing 100 of 121 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

PLTP — phospholipid transfer protein