F2RL3

F2R like thrombin or trypsin receptor 3

Summary

This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Hypomethylation at this gene may be associated with lung cancer in human patients. [provided by RefSeq, Sep 2016]

Known Variants40 total

rsidPosition (GRCh37)AllelesClassClinVar
rs222734119:16,999,700G/C
rs131717373819:17,000,004T/Cuncertain significance
rs74817050219:17,000,073G/Alikely benign
rs76546469319:17,000,453C/Tlikely benign
rs75216505619:17,000,476C/Tuncertain significance
rs77026288319:17,000,497G/Auncertain significance
rs54913046719:17,000,587C/Guncertain significance
rs103568880819:17,000,596C/Tuncertain significance
rs14090234919:17,000,624A/Guncertain significance
rs77390219:17,000,632G/Amissense variantbenign
rs20207330919:17,000,686C/Tuncertain significance
rs75720115519:17,000,689G/Auncertain significance
rs55802882719:17,000,732C/Tuncertain significance
rs36874060119:17,000,817G/Alikely benign
rs77580989819:17,000,822G/Auncertain significance
rs56227959319:17,000,831C/Guncertain significance
rs14886518519:17,000,930G/Auncertain significance
rs105123771319:17,000,933T/Guncertain significance
rs74930179619:17,000,938C/Tuncertain significance
rs37063421519:17,000,965G/Auncertain significance
rs75151809819:17,000,966C/Tlikely benign
rs86716885719:17,001,034T/Auncertain significance
rs223080019:17,001,045G/Tbenign
rs134906470419:17,001,074C/Tuncertain significance
rs76043037119:17,001,097G/Auncertain significance
rs205177351719:17,001,123G/Cuncertain significance
rs133173940619:17,001,148G/Auncertain significance
rs76298140819:17,001,151G/Auncertain significance
rs103771528719:17,001,197C/Tuncertain significance
rs74570813619:17,001,208C/Tuncertain significance
rs77460418419:17,001,220G/Auncertain significance
rs222734719:17,001,240C/Tbenign
rs13923296819:17,001,277G/Auncertain significance
rs14244213819:17,001,325G/Tuncertain significance
rs77980745119:17,001,346C/Tuncertain significance
rs36912909419:17,001,353C/Guncertain significance
rs251264337119:17,001,379T/Cuncertain significance
rs14514578519:17,001,384G/Abenign
rs37280941919:17,001,392G/Auncertain significance
rs74788873919:17,001,412C/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.