FMN2

formin 2

Summary

This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. This protein mediates the formation of an actin mesh that positions the spindle during oogenesis and also regulates the formation of actin filaments in the nucleus. This protein also forms a perinuclear actin/focal-adhesion system that regulates the shape and position of the nucleus during cell migration. Mutations in this gene have been associated with infertility and also with an autosomal recessive form of intellectual disability (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2017]

Known Variants394 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1660992161	1:240,255,409	C/T	—	uncertain significance
rs757156181	1:240,255,493	G/A	—	likely benign
rs745730585	1:240,255,501	A/G	—	uncertain significance
rs534567846	1:240,255,557	A/C	—	uncertain significance
rs1480838856	1:240,255,562	G/A	—	likely benign
rs1465821580	1:240,255,571	C/G	—	likely benign
rs552568759	1:240,255,577	C/A	—	likely benign
rs756756480	1:240,255,586	G/T	—	likely benign
rs201857219	1:240,255,635	T/A	—	uncertain significance
rs1278261031	1:240,255,679	C/T	—	likely benign
rs781315139	1:240,255,701	C/G	—	uncertain significance
rs1205278422	1:240,255,770	C/A	—	uncertain significance
rs112904598	1:240,255,772	C/T	—	benign
rs1283481751	1:240,255,780	C/T	—	uncertain significance
rs200157875	1:240,255,793	C/T	—	likely benign
rs375101837	1:240,255,808	C/T	—	likely benign
rs143096048	1:240,255,835	C/T	—	benign
rs370945971	1:240,255,877	C/T	—	likely benign
rs1572736839	1:240,255,934	C/A	—	likely benign
rs148480631	1:240,255,940	G/A	—	likely benign
rs757511770	1:240,255,956	A/T	missense variant	pathogenic
rs150505248	1:240,255,984	A/T	—	uncertain significance
rs533165347	1:240,256,013	G/A	—	uncertain significance
rs1458799973	1:240,256,038	A/G	—	uncertain significance
rs766474706	1:240,256,090	G/A	—	likely benign
rs753172887	1:240,256,103	C/G	—	uncertain significance
rs11583501	1:240,256,105	T/C	—	likely benign
rs1198518631	1:240,256,108	A/C	—	likely benign
rs771814202	1:240,256,117	C/G	—	likely benign
rs761713019	1:240,256,138	C/T	—	likely benign
rs1021104317	1:240,256,140	G/C	—	uncertain significance
rs2528656423	1:240,256,151	G/A	—	uncertain significance
rs763166094	1:240,256,169	C/A	—	uncertain significance
rs147858483	1:240,256,187	G/A	—	benign
rs759794039	1:240,256,215	C/G	—	uncertain significance
rs886043509	1:240,256,255	C/A	—	uncertain significance
rs1349891883	1:240,256,271	C/T	—	uncertain significance
rs1393310059	1:240,256,283	C/T	—	likely pathogenic
rs1244219142	1:240,256,286	C/T	—	uncertain significance
rs201538863	1:240,256,292	T/C	—	conflicting classifications of pathogenicity
rs779845544	1:240,256,293	C/T	—	uncertain significance
rs556876873	1:240,256,302	G/A	—	likely benign
rs754511896	1:240,256,312	C/T	—	likely benign
rs1007515366	1:240,256,319	G/A	—	uncertain significance
rs1553322489	1:240,256,325	A/G	—	uncertain significance
rs901534417	1:240,256,333	G/C	—	likely benign
rs769703635	1:240,256,362	C/T	—	uncertain significance
rs541790538	1:240,256,423	C/T	—	likely benign
rs559793960	1:240,256,439	G/A	—	likely benign
rs1033849931	1:240,256,443	C/T	—	uncertain significance
rs1416507669	1:240,256,445	G/A	—	uncertain significance
rs1477872332	1:240,256,463	G/T	—	uncertain significance
rs761094036	1:240,256,486	G/A	—	likely benign
rs1445709911	1:240,256,506	G/A	—	likely pathogenic
rs754219620	1:240,256,509	C/T	—	uncertain significance
rs757662354	1:240,256,512	C/G	—	uncertain significance
rs202231609	1:240,256,579	C/A	—	uncertain significance
rs2528660648	1:240,256,583	C/T	—	uncertain significance
rs760802198	1:240,256,609	C/T	—	likely benign
rs762357829	1:240,256,617	C/T	—	uncertain significance
rs2103159386	1:240,256,633	C/G	—	uncertain significance
rs200347646	1:240,256,653	C/T	—	uncertain significance
rs961555645	1:240,256,667	A/G	—	uncertain significance
rs146681532	1:240,256,668	A/C	—	conflicting classifications of pathogenicity
rs528260990	1:240,256,671	C/A	—	uncertain significance
rs150033699	1:240,256,693	G/T	—	likely benign
rs201430864	1:240,256,698	A/G	—	uncertain significance
rs145379416	1:240,256,761	T/A	—	likely benign
rs147961923	1:240,256,767	G/A	—	conflicting classifications of pathogenicity
rs142335257	1:240,256,781	G/A	—	uncertain significance
rs1463766241	1:240,256,787	G/A	—	uncertain significance
rs771349783	1:240,256,789	C/T	—	likely benign
rs554698558	1:240,256,799	G/T	—	uncertain significance
rs997168836	1:240,256,817	C/T	—	uncertain significance
rs10926124	1:240,256,822	C/A	—	benign
rs879255415	1:240,256,890	C/G	—	uncertain significance
rs776241077	1:240,256,894	G/T	—	likely benign
rs764755974	1:240,256,916	C/A	—	uncertain significance
rs376836605	1:240,256,932	C/T	—	uncertain significance
rs751437472	1:240,256,946	G/C	—	uncertain significance
rs1661097191	1:240,257,000	G/T	—	not provided
rs538762840	1:240,257,014	C/G	—	uncertain significance
rs780352289	1:240,257,034	C/G	—	likely benign
rs11810574	1:240,283,736	A/G	intron variant	—
rs1247510585	1:240,286,481	C/T	—	pathogenic
rs780407409	1:240,286,485	C/T	—	uncertain significance
rs372095380	1:240,286,495	G/A	—	likely benign
rs149514160	1:240,286,516	G/A	—	likely benign
rs773871472	1:240,286,519	C/T	—	likely benign
rs201654893	1:240,286,520	G/A	—	uncertain significance
rs141488751	1:240,286,552	C/A	—	likely benign
rs146195271	1:240,286,610	A/G	—	uncertain significance
rs773816611	1:240,286,611	A/C	—	uncertain significance
rs115215815	1:240,286,653	G/A	—	benign
rs3738433	1:240,286,716	G/A	intron variant	—
rs145328692	1:240,298,434	T/C	intron variant	—
rs375865107	1:240,341,241	G/A	—	likely pathogenic
rs1231192657	1:240,341,246	C/T	—	uncertain significance
rs1664990740	1:240,341,263	C/T	—	uncertain significance
rs3765588	1:240,341,268	A/G	—	benign

Showing 100 of 394 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.