MARK2

microtubule affinity regulating kinase 2

Summary

This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

Known Variants56 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7939351	11:63,616,054	G/T	—	—
rs10751002	11:63,617,634	T/G	intron variant	—
rs535744882	11:63,628,158	G/T	—	—
rs10792422	11:63,632,673	G/T	intron variant	—
rs754439000	11:63,662,626	C/T	—	likely benign
rs141830377	11:63,662,724	A/G	—	uncertain significance
rs760780052	11:63,662,732	C/G	—	uncertain significance
rs868032104	11:63,662,787	C/T	—	pathogenic
rs2539306245	11:63,663,050	A/G	—	likely pathogenic
rs2539306253	11:63,663,056	C/T	—	pathogenic
rs760324570	11:63,663,081	A/G	—	likely benign
rs2539313698	11:63,665,753	G/T	—	pathogenic
rs184514302	11:63,665,760	C/G	—	likely benign
rs1481250883	11:63,666,140	G/A	—	uncertain significance
rs2539315343	11:63,666,145	G/A	—	likely pathogenic
rs2539315773	11:63,666,233	A/C	—	uncertain significance
rs2135335880	11:63,666,234	G/A	—	likely benign
rs1387170272	11:63,666,288	C/T	—	uncertain significance
rs12099085	11:63,666,944	C/T	intron variant	—
rs1940729976	11:63,667,395	T/C	—	uncertain significance
rs2539319606	11:63,667,571	C/T	—	pathogenic
rs1590686402	11:63,668,045	G/C	—	likely benign
rs1468332923	11:63,668,267	C/T	—	uncertain significance
rs199684279	11:63,668,268	G/A	—	uncertain significance
rs191213688	11:63,668,287	C/T	—	benign
rs2539322573	11:63,668,428	G/A	—	pathogenic
rs373352515	11:63,668,437	G/A	—	uncertain significance
rs1940823816	11:63,668,542	G/A	—	pathogenic
rs367599531	11:63,669,719	C/A	—	uncertain significance
rs1057177	11:63,669,734	C/T	—	uncertain significance
rs761752661	11:63,669,752	T/C	—	uncertain significance
rs538928060	11:63,670,132	G/A	—	uncertain significance
rs56291692	11:63,670,215	C/A	—	benign
rs2539330444	11:63,670,632	T/G	—	likely pathogenic
rs779235042	11:63,671,487	C/T	—	uncertain significance
rs759996073	11:63,671,507	G/C	—	uncertain significance
rs2539333013	11:63,671,510	T/A	—	uncertain significance
rs1941125744	11:63,671,582	C/T	—	uncertain significance
rs746404079	11:63,672,295	G/A	—	uncertain significance
rs1414179596	11:63,672,323	C/G	—	uncertain significance
rs1941197590	11:63,672,331	C/T	—	pathogenic
rs151049341	11:63,672,479	G/A	—	uncertain significance
rs750480856	11:63,672,512	G/T	—	uncertain significance
rs2539336006	11:63,672,516	G/A	—	likely pathogenic
rs1369701108	11:63,675,760	C/T	—	likely pathogenic
rs55767673	11:63,675,772	C/T	—	uncertain significance
rs2539349764	11:63,676,365	A/G	—	likely benign
rs568393922	11:63,676,513	A/C	—	uncertain significance
rs320106	11:63,676,517	C/T	—	benign
rs320107	11:63,676,562	G/A	—	benign
rs1212591677	11:63,676,572	G/A	—	likely benign
rs2539350467	11:63,676,581	C/T	—	pathogenic
rs2539350502	11:63,676,597	T/C	—	likely pathogenic
rs2539350612	11:63,676,633	G/C	—	likely pathogenic
rs764981503	11:63,676,703	G/T	—	uncertain significance
rs538278494	11:63,678,382	C/T	—	—

Gene information from NCBI Gene. Variant classifications from ClinVar.