AMFR
autocrine motility factor receptor
Summary
This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760199296 | 16:56,396,907 | C/A | — | uncertain significance |
| rs371217450 | 16:56,396,936 | G/A | — | uncertain significance |
| rs869025244 | 16:56,396,967 | G/A | — | uncertain significance |
| rs755068171 | 16:56,397,963 | C/T | — | likely benign |
| rs201184108 | 16:56,398,011 | G/A | — | uncertain significance |
| rs202074356 | 16:56,401,439 | G/A | — | uncertain significance |
| rs2543462030 | 16:56,403,230 | T/A | — | uncertain significance |
| rs150911013 | 16:56,418,284 | T/C | intron variant | — |
| rs761117811 | 16:56,419,866 | T/C | — | uncertain significance |
| rs2432539 | 16:56,420,987 | A/C | — | — |
| rs746312814 | 16:56,423,132 | C/T | — | uncertain significance |
| rs760448090 | 16:56,423,154 | C/G | — | uncertain significance |
| rs758196891 | 16:56,423,207 | C/T | — | uncertain significance |
| rs187702687 | 16:56,423,208 | G/A | — | uncertain significance |
| rs868850978 | 16:56,423,220 | C/T | — | uncertain significance |
| rs745966114 | 16:56,423,276 | C/T | — | uncertain significance |
| rs2543497074 | 16:56,423,281 | A/T | — | pathogenic |
| rs113480443 | 16:56,431,408 | G/C | — | — |
| rs112233856 | 16:56,432,217 | A/G | intron variant | — |
| rs150798359 | 16:56,435,672 | T/G | — | uncertain significance |
| rs764024142 | 16:56,435,730 | G/T | — | uncertain significance |
| rs369433667 | 16:56,435,752 | A/C | — | uncertain significance |
| rs1334244754 | 16:56,436,931 | T/C | — | uncertain significance |
| rs201373259 | 16:56,436,942 | C/T | — | uncertain significance |
| rs778150651 | 16:56,436,952 | G/A | — | uncertain significance |
| rs2543520393 | 16:56,436,994 | C/T | — | uncertain significance |
| rs202005496 | 16:56,438,840 | A/G | — | uncertain significance |
| rs1961258181 | 16:56,439,132 | C/A | — | uncertain significance |
| rs772111343 | 16:56,441,926 | T/C | — | likely benign |
| rs144323704 | 16:56,441,988 | C/T | — | uncertain significance |
| rs746401076 | 16:56,442,008 | C/T | — | likely benign |
| rs2543536518 | 16:56,443,457 | A/T | — | uncertain significance |
| rs2543536595 | 16:56,443,480 | C/T | — | pathogenic |
| rs182001894 | 16:56,456,848 | T/A | intron variant | — |
| rs1961896737 | 16:56,458,986 | C/T | — | pathogenic |
| rs866418006 | 16:56,459,028 | C/T | — | uncertain significance |
| rs1005892570 | 16:56,459,029 | G/A | — | uncertain significance |
| rs1280565251 | 16:56,459,074 | C/T | — | uncertain significance |
| rs1329925940 | 16:56,459,184 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.