FLT1

fms related receptor tyrosine kinase 1

Summary

This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]

Known Variants123 total

rsidPosition (GRCh37)AllelesClassClinVar
rs732627713:28,876,214T/Cregulatory region variant—
rs187058539313:28,877,337G/T—uncertain significance
rs14210025013:28,877,352C/T—likely benign
rs187058987713:28,877,395T/C—uncertain significance
rs951307013:28,879,839G/Aintron variant—
rs250222691713:28,880,656T/C—benign
rs13933386413:28,880,825G/A—uncertain significance
rs20140296213:28,880,830G/C—uncertain significance
rs74632204413:28,880,860C/T—uncertain significance
rs250222777113:28,880,987G/T—uncertain significance
rs958203613:28,885,408C/G——
rs14086111513:28,885,760G/A—likely benign
rs76408766813:28,885,763G/A—uncertain significance
rs93301278313:28,885,799G/T—uncertain significance
rs37744284213:28,885,804A/G—likely benign
rs5567321713:28,885,810G/A—likely benign
rs250223622513:28,885,869C/T—uncertain significance
rs57387064613:28,886,151C/G—uncertain significance
rs955432013:28,886,927A/G——
rs73088226313:28,891,692C/G—not provided
rs77960648113:28,891,714C/G—uncertain significance
rs37361553113:28,891,732C/T—uncertain significance
rs250224587313:28,891,734C/T—uncertain significance
rs53740317413:28,891,750T/G—not provided
rs1258406713:28,892,257C/Gintron variant—
rs931942513:28,892,985C/A——
rs229618813:28,893,484T/Cintron variant—
rs229618913:28,893,642A/Gsynonymous variantbenign
rs213882682313:28,893,649A/G—uncertain significance
rs37130806513:28,893,681G/A—benign
rs57691299713:28,893,740T/A—not provided
rs798764913:28,894,415A/Gintron variant—
rs159367845013:28,895,375A/C—uncertain significance
rs250225279213:28,895,678C/G—uncertain significance
rs74913982013:28,895,719T/C—uncertain significance
rs15051555213:28,895,720G/A—likely benign
rs37625726513:28,896,488C/T—uncertain significance
rs3583252813:28,896,935T/Gmissense variant—
rs250225624713:28,897,046A/G—uncertain significance
rs3554979113:28,897,068T/C—likely benign
rs1761960113:28,900,510C/Tintron variant—
rs55838144713:28,901,716T/G—not provided
rs53710507813:28,901,726C/G—not provided
rs7800601913:28,901,877G/A—uncertain significance
rs138725827213:28,901,882C/A—uncertain significance
rs77568282113:28,903,800G/T—uncertain significance
rs76610123513:28,903,863C/T—uncertain significance
rs250226630113:28,903,917C/T—uncertain significance
rs1161735413:28,912,453A/Gregulatory region variant—
rs122375863513:28,913,356G/T—uncertain significance
rs14770488113:28,913,411G/A—benign
rs238763213:28,916,343T/A——
rs732454713:28,929,607A/Gregulatory region variant—
rs1708660913:28,929,711A/C——
rs250230839213:28,931,787T/A—uncertain significance
rs1762589813:28,932,830T/A——
rs76147593713:28,959,073C/T—uncertain significance
rs213744946513:28,959,076G/C—uncertain significance
rs1184377613:28,959,077G/A—benign
rs122267528513:28,959,084T/C—uncertain significance
rs375139713:28,960,593T/G——
rs733761013:28,962,666T/G——
rs229628313:28,963,702G/T——
rs250236951113:28,963,942T/A—uncertain significance
rs187459387713:28,963,986C/G—uncertain significance
rs187459819913:28,964,031A/G—uncertain significance
rs20122683513:28,964,102C/A—uncertain significance
rs13958654613:28,964,121G/A—uncertain significance
rs76936276413:28,964,201C/T—likely benign
rs36968663413:28,964,209T/C—uncertain significance
rs798377413:28,964,325G/T——
rs14847982413:28,971,113T/C—likely benign
rs20182328213:28,971,175T/C—uncertain significance
rs931942813:28,973,621G/Aintron variant—
rs7733037013:28,978,923G/Aintron variant—
rs76360611913:28,979,952T/C—uncertain significance
rs6176318113:28,979,966C/T—uncertain significance
rs213749240313:28,979,984T/C—uncertain significance
rs5567530613:28,979,994G/A—benign
rs950802513:28,984,063C/Gintron variant—
rs950802613:28,984,400C/Tintron variant—
rs733558813:28,984,502G/C——
rs955146813:28,985,316C/Gintron variant—
rs55225290513:28,986,016C/G——
rs951310613:28,993,669A/Cintron variant—
rs994392213:28,994,655T/Cintron variant—
rs72250313:28,997,052C/G——
rs6176317813:29,001,430G/A—benign
rs187740536813:29,001,432C/T—uncertain significance
rs75189631313:29,001,448G/T—likely benign
rs19965843713:29,001,904T/A—uncertain significance
rs250245905013:29,001,951A/G—uncertain significance
rs76754848013:29,002,024C/G—uncertain significance
rs187756570913:29,003,968C/A—uncertain significance
rs14526666713:29,004,198C/T—benign
rs97059157113:29,004,271T/C—uncertain significance
rs139550796313:29,005,390T/C—likely benign
rs55028831913:29,005,398T/A—uncertain significance
rs20120874113:29,005,406G/C—likely benign
rs14128664613:29,005,422C/T—likely benign

Showing 100 of 123 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.