MERTK

MER proto-oncogene, tyrosine kinase

Summary

This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]

Known Variants659 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1224407714	2:112,656,194	C/T	—	uncertain significance
rs141412373	2:112,656,279	G/A	—	likely benign
rs1424907891	2:112,656,317	G/T	—	uncertain significance
rs1326403828	2:112,656,322	G/A	—	uncertain significance
rs766821604	2:112,656,326	C/T	—	uncertain significance
rs1245540834	2:112,656,327	G/A	—	likely benign
rs752112582	2:112,656,333	G/T	—	conflicting classifications of pathogenicity
rs1683973924	2:112,656,339	G/A	—	uncertain significance
rs755593299	2:112,656,346	C/T	—	uncertain significance
rs748928622	2:112,656,357	C/A	—	likely benign
rs1017599113	2:112,656,368	G/T	—	uncertain significance
rs552509122	2:112,656,371	G/C	—	uncertain significance
rs35898499	2:112,656,372	A/T	—	conflicting classifications of pathogenicity
rs1573554264	2:112,656,374	G/A	—	pathogenic
rs746981720	2:112,656,376	G/C	—	uncertain significance
rs913971460	2:112,656,379	T/C	—	uncertain significance
rs1167505389	2:112,656,380	G/A	—	likely benign
rs115821982	2:112,656,392	G/T	—	likely benign
rs869016	2:112,659,110	G/A	intron variant	—
rs17174870	2:112,665,201	C/T	intron variant	—
rs4264571	2:112,674,149	T/C	intron variant	—
rs778452635	2:112,686,677	T/G	—	likely benign
rs750138539	2:112,686,679	G/A	—	likely benign
rs531914747	2:112,686,681	A/T	—	likely benign
rs374155624	2:112,686,685	T/C	—	likely benign
rs2466746000	2:112,686,688	G/A	—	likely benign
rs1489949866	2:112,686,694	C/T	—	uncertain significance
rs1206954845	2:112,686,721	C/G	—	uncertain significance
rs1308272767	2:112,686,725	G/C	—	uncertain significance
rs1167524389	2:112,686,727	C/T	—	uncertain significance
rs144751432	2:112,686,733	C/T	—	conflicting classifications of pathogenicity
rs771189892	2:112,686,734	G/A	—	likely benign
rs143215350	2:112,686,737	A/G	—	likely benign
rs150870104	2:112,686,742	C/T	—	likely benign
rs367707279	2:112,686,743	G/A	—	likely benign
rs1684622333	2:112,686,754	C/T	—	uncertain significance
rs527694612	2:112,686,773	C/G	—	conflicting classifications of pathogenicity
rs567766808	2:112,686,781	C/T	—	uncertain significance
rs751401674	2:112,686,782	G/A	—	likely benign
rs754922274	2:112,686,798	C/A	—	uncertain significance
rs781297101	2:112,686,800	C/T	—	likely benign
rs868686893	2:112,686,801	G/A	—	uncertain significance
rs1051108169	2:112,686,805	G/A	—	uncertain significance
rs140848545	2:112,686,823	T/C	—	uncertain significance
rs1382285568	2:112,686,825	A/G	—	uncertain significance
rs777970779	2:112,686,835	C/T	—	uncertain significance
rs138557708	2:112,686,837	A/G	—	uncertain significance
rs2104686522	2:112,686,838	C/T	—	uncertain significance
rs200120223	2:112,686,842	G/C	—	uncertain significance
rs527236083	2:112,686,860	—	—	pathogenic
rs137909193	2:112,686,866	C/T	—	benign
rs764637670	2:112,686,867	G/A	—	uncertain significance
rs1684624760	2:112,686,886	C/A	—	uncertain significance
rs766157024	2:112,686,893	C/T	—	likely benign
rs751346459	2:112,686,894	G/C	—	uncertain significance
rs372527246	2:112,686,898	C/G	—	pathogenic
rs767490861	2:112,686,903	C/T	—	uncertain significance
rs199912096	2:112,686,904	C/A	—	uncertain significance
rs200985967	2:112,686,910	C/T	—	uncertain significance
rs571353346	2:112,686,911	G/A	—	likely benign
rs2104686613	2:112,686,918	G/A	—	uncertain significance
rs1047248515	2:112,686,937	G/C	—	uncertain significance
rs1238990844	2:112,686,939	C/T	—	uncertain significance
rs779086053	2:112,686,944	A/G	—	uncertain significance
rs2466747044	2:112,686,947	A/G	—	uncertain significance
rs786205533	2:112,686,960	A/T	stop gained	pathogenic
rs746128532	2:112,686,961	A/G	—	uncertain significance
rs143388544	2:112,686,964	G/T	—	uncertain significance
rs1409905689	2:112,686,968	C/T	—	likely benign
rs1419559740	2:112,686,974	T/C	—	likely benign
rs1684626658	2:112,686,978	T/G	—	uncertain significance
rs772421550	2:112,686,980	C/G	—	pathogenic
rs13027171	2:112,686,988	G/A	—	benign
rs139327260	2:112,686,990	G/A	—	uncertain significance
rs796928519	2:112,686,993	C/T	—	uncertain significance
rs772554501	2:112,686,997	A/G	—	uncertain significance
rs984856838	2:112,686,999	A/G	—	uncertain significance
rs527236134	2:112,687,005	C/T	stop gained	pathogenic
rs774145774	2:112,687,014	A/T	—	uncertain significance
rs2104686768	2:112,687,048	T/C	—	uncertain significance
rs370201392	2:112,687,052	G/A	—	likely benign
rs764113900	2:112,687,055	A/C	—	likely benign
rs2466747318	2:112,687,072	A/G	—	uncertain significance
rs373445297	2:112,687,098	G/A	—	uncertain significance
rs758631997	2:112,687,106	C/T	—	likely benign
rs780214104	2:112,687,107	G/A	—	uncertain significance
rs768990836	2:112,687,110	T/A	—	uncertain significance
rs1007360892	2:112,687,120	A/G	—	uncertain significance
rs2104686843	2:112,687,126	T/C	—	likely benign
rs6755970	2:112,689,980	A/G	downstream gene variant	—
rs112977309	2:112,702,191	C/T	—	—
rs200935488	2:112,702,519	A/T	—	likely benign
rs145741753	2:112,702,521	G/A	—	likely benign
rs758575057	2:112,702,526	T/C	—	likely benign
rs2466777264	2:112,702,530	T/G	—	likely benign
rs1684937955	2:112,702,536	G/C	—	likely pathogenic
rs1684938059	2:112,702,549	G/T	—	likely benign
rs751775589	2:112,702,551	A/G	—	uncertain significance
rs755335718	2:112,702,553	C/T	—	uncertain significance
rs781470358	2:112,702,554	G/A	—	uncertain significance

Showing 100 of 659 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.