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

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

Gene information from NCBI Gene. Variant classifications from ClinVar.