AXL

AXL receptor tyrosine kinase

Summary

The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]

Known Variants199 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2301236	19:41,724,820	A/G	—	benign
rs28364580	19:41,724,885	G/A	—	benign
rs10411012	19:41,725,271	G/A	—	benign
rs2033742689	19:41,725,299	T/G	—	uncertain significance
rs10411373	19:41,725,302	C/T	—	uncertain significance
rs779811231	19:41,725,308	G/A	—	uncertain significance
rs530407469	19:41,725,333	G/A	—	likely benign
rs145867512	19:41,725,350	C/T	—	likely benign
rs767609165	19:41,725,351	G/C	—	likely benign
rs1000076660	19:41,725,377	C/T	—	uncertain significance
rs73550504	19:41,725,410	G/A	—	benign
rs73931453	19:41,726,454	G/A	—	benign
rs373332249	19:41,726,528	A/C	—	likely benign
rs1599723240	19:41,726,537	C/G	—	likely benign
rs201764420	19:41,726,545	G/A	—	likely benign
rs781049505	19:41,726,567	G/A	—	uncertain significance
rs770570685	19:41,726,585	A/G	—	uncertain significance
rs774132867	19:41,726,597	C/T	—	uncertain significance
rs200598880	19:41,726,598	G/C	—	uncertain significance
rs369684238	19:41,726,603	C/T	—	likely benign
rs55767963	19:41,726,608	G/A	—	likely benign
rs765631388	19:41,726,615	C/A	—	uncertain significance
rs200868176	19:41,726,627	C/G	—	uncertain significance
rs144418422	19:41,726,633	G/A	—	uncertain significance
rs143071942	19:41,726,667	G/A	—	uncertain significance
rs776776986	19:41,726,691	C/T	—	conflicting classifications of pathogenicity
rs201794937	19:41,726,777	T/G	—	likely benign
rs116592350	19:41,727,044	C/T	—	likely benign
rs35202236	19:41,727,077	C/T	—	uncertain significance
rs927126175	19:41,727,099	G/A	—	uncertain significance
rs969922085	19:41,727,119	T/C	—	uncertain significance
rs1236482248	19:41,727,121	G/C	—	uncertain significance
rs2516388171	19:41,727,145	C/T	—	likely benign
rs2271546	19:41,727,197	C/T	—	benign
rs73550509	19:41,727,492	C/A	—	benign
rs55881297	19:41,727,629	T/C	—	benign
rs201836604	19:41,727,769	C/T	—	benign
rs2122198354	19:41,727,774	C/T	—	likely benign
rs2122198379	19:41,727,778	C/T	—	likely benign
rs372322012	19:41,727,780	G/A	—	likely benign
rs148074357	19:41,727,810	C/T	—	benign
rs140091980	19:41,727,820	A/G	—	benign
rs767629887	19:41,727,828	C/T	—	likely benign
rs765828639	19:41,727,836	C/A	—	uncertain significance
rs759394283	19:41,727,868	C/G	—	uncertain significance
rs150285609	19:41,727,913	C/T	—	benign
rs200904022	19:41,727,916	G/T	—	likely benign
rs34645731	19:41,727,955	G/A	—	likely benign
rs10409940	19:41,728,765	T/C	upstream gene variant	—
rs768501355	19:41,736,858	A/G	—	likely benign
rs376082526	19:41,736,866	C/T	—	likely benign
rs776682499	19:41,736,935	G/A	—	uncertain significance
rs2122219287	19:41,736,968	G/C	—	likely benign
rs79266409	19:41,737,017	G/A	—	benign
rs200765254	19:41,737,076	G/A	—	benign
rs142452494	19:41,737,137	G/A	—	likely benign
rs950685158	19:41,737,151	C/G	—	uncertain significance
rs780756544	19:41,737,169	G/A	—	uncertain significance
rs150914023	19:41,737,170	C/T	—	benign
rs756064558	19:41,737,174	A/G	—	uncertain significance
rs749047403	19:41,737,186	A/G	—	uncertain significance
rs200206204	19:41,737,220	T/C	—	benign
rs77142490	19:41,737,329	G/T	—	benign
rs79855742	19:41,737,344	C/T	—	benign
rs76249126	19:41,737,410	C/T	—	benign
rs75955910	19:41,737,414	A/G	—	benign
rs12973055	19:41,737,851	C/A	—	—
rs186317172	19:41,739,067	G/A	intron variant	—
rs66841352	19:41,739,180	G/C	intron variant	—
rs139425206	19:41,739,862	C/G	regulatory region variant	—
rs4802114	19:41,741,278	G/A	—	—
rs139491068	19:41,743,849	G/A	—	benign
rs775032851	19:41,743,857	G/A	—	likely benign
rs7249222	19:41,743,861	A/C	missense variant	—
rs2034109267	19:41,743,871	T/G	—	uncertain significance
rs374699228	19:41,743,883	C/T	—	uncertain significance
rs747220380	19:41,743,886	G/A	—	uncertain significance
rs191926606	19:41,743,910	C/T	—	uncertain significance
rs201003955	19:41,743,919	C/T	—	conflicting classifications of pathogenicity
rs760246352	19:41,743,920	G/T	—	likely benign
rs2516410147	19:41,743,923	A/G	—	likely benign
rs113249799	19:41,743,929	C/T	—	benign
rs141302305	19:41,743,930	G/A	—	likely benign
rs1160421475	19:41,743,939	C/G	—	uncertain significance
rs751738506	19:41,743,948	C/T	—	uncertain significance
rs778289997	19:41,743,970	A/T	—	uncertain significance
rs761277009	19:41,743,989	C/T	—	likely benign
rs1599733358	19:41,744,006	G/A	—	uncertain significance
rs56408665	19:41,744,049	G/A	—	benign
rs779526458	19:41,744,051	C/T	—	uncertain significance
rs2516410660	19:41,744,057	G/A	—	uncertain significance
rs75837457	19:41,744,101	G/T	—	benign
rs112180627	19:41,744,355	C/A	—	benign
rs2516411401	19:41,744,369	C/T	—	uncertain significance
rs778558262	19:41,744,431	G/C	—	likely benign
rs143593613	19:41,744,449	C/T	—	uncertain significance
rs768522110	19:41,744,454	G/A	—	likely benign
rs141929169	19:41,744,462	A/C	—	likely benign
rs2034125031	19:41,744,472	G/A	—	likely benign
rs763059327	19:41,744,476	G/C	—	uncertain significance

Showing 100 of 199 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.