RPS6KA3

ribosomal protein S6 kinase A3

Summary

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

Known Variants330 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112566025	X:20,173,245	A/G	—	benign
rs371053039	X:20,173,534	G/A	—	likely benign
rs2519567556	X:20,173,535	A/T	—	uncertain significance
rs1603417198	X:20,173,546	A/G	—	likely benign
rs28935171	X:20,173,553	C/T	missense variant	pathogenic
rs1555924331	X:20,173,554	G/A	—	pathogenic
rs144984628	X:20,173,571	C/T	missense variant	uncertain significance
rs35026425	X:20,173,572	G/A	—	likely benign
rs1241566447	X:20,173,597	C/T	—	benign
rs1323142539	X:20,173,605	G/A	—	uncertain significance
rs760969945	X:20,173,621	T/C	—	likely benign
rs2148622698	X:20,173,637	C/T	—	uncertain significance
rs2519568342	X:20,173,640	T/C	—	pathogenic
rs2519568477	X:20,173,657	G/T	—	likely benign
rs73631381	X:20,173,694	A/G	—	benign
rs111948591	X:20,174,010	C/T	—	likely benign
rs935931603	X:20,174,212	T/C	—	likely benign
rs2519572614	X:20,174,217	G/A	—	uncertain significance
rs1481860898	X:20,174,222	C/T	—	uncertain significance
rs2519572706	X:20,174,232	C/T	—	uncertain significance
rs1309088451	X:20,174,242	T/C	—	likely benign
rs766164918	X:20,174,254	G/A	—	benign
rs122454128	X:20,174,262	G/A	stop gained	pathogenic
rs2148624071	X:20,174,285	T/C	—	uncertain significance
rs147566276	X:20,174,290	G/A	—	likely benign
rs1331785540	X:20,174,305	G/A	—	benign
rs2148624146	X:20,174,315	G/A	—	uncertain significance
rs2519573275	X:20,174,316	C/G	—	uncertain significance
rs2519573381	X:20,174,327	C/T	—	uncertain significance
rs1603417440	X:20,174,331	G/A	—	pathogenic
rs139718656	X:20,174,338	G/A	—	likely benign
rs2148624219	X:20,174,348	A/C	—	uncertain significance
rs2067184984	X:20,174,357	G/C	—	pathogenic
rs886043470	X:20,174,359	C/T	—	uncertain significance
rs1207197365	X:20,174,370	G/A	—	uncertain significance
rs2519573827	X:20,174,383	T/A	—	likely benign
rs199913852	X:20,179,745	T/G	—	likely benign
rs1064796008	X:20,179,760	—	—	pathogenic
rs2067306564	X:20,179,769	G/A	—	uncertain significance
rs1305212085	X:20,179,771	G/A	—	likely benign
rs886041328	X:20,179,787	C/T	stop gained	pathogenic
rs760416219	X:20,179,801	G/A	—	likely benign
rs1555926346	X:20,179,821	C/A	—	uncertain significance
rs1210859060	X:20,179,826	C/T	—	uncertain significance
rs1085307639	X:20,179,827	G/A	stop gained	pathogenic
rs150107747	X:20,179,837	T/A	—	likely benign
rs1555926370	X:20,179,844	G/A	—	uncertain significance
rs2148635858	X:20,179,863	T/C	—	uncertain significance
rs2519605005	X:20,179,870	T/C	—	likely benign
rs748517305	X:20,179,886	T/C	—	benign
rs1245815546	X:20,179,899	A/G	—	likely benign
rs187489257	X:20,180,179	G/A	—	likely benign
rs58008925	X:20,180,920	G/A	—	benign
rs1413484122	X:20,181,092	T/C	—	uncertain significance
rs1770398814	X:20,181,097	T/A	—	uncertain significance
rs2067342745	X:20,181,100	A/C	—	likely pathogenic
rs2519612941	X:20,181,109	C/T	—	pathogenic
rs1057524393	X:20,181,125	C/T	—	likely pathogenic
rs2067343280	X:20,181,160	T/G	—	pathogenic
rs4075126	X:20,182,795	G/A	—	benign
rs59390296	X:20,182,862	C/T	—	benign
rs1555927532	X:20,183,019	C/G	—	likely pathogenic
rs1064795003	X:20,183,040	T/C	missense variant	pathogenic
rs145529719	X:20,183,071	C/T	—	likely benign
rs1555927554	X:20,183,082	G/A	—	pathogenic
rs2519624995	X:20,183,085	T/C	—	uncertain significance
rs2148643556	X:20,183,093	C/T	—	uncertain significance
rs2519625038	X:20,183,102	C/T	—	likely pathogenic
rs1569194043	X:20,183,103	A/G	—	uncertain significance
rs2519625088	X:20,183,109	G/A	—	pathogenic
rs756922750	X:20,183,119	C/T	—	benign
rs2148643592	X:20,183,120	G/A	—	conflicting classifications of pathogenicity
rs1555927575	X:20,183,148	T/C	—	uncertain significance
rs1057524314	X:20,183,175	C/A	missense variant	pathogenic
rs1569194162	X:20,183,183	T/C	—	pathogenic
rs2519625563	X:20,183,197	A/C	—	likely benign
rs7892835	X:20,184,037	G/A	intron variant	—
rs778684848	X:20,185,690	G/A	—	likely benign
rs750158064	X:20,185,694	T/G	—	likely benign
rs1183435589	X:20,185,715	C/T	—	uncertain significance
rs757920979	X:20,185,716	G/A	—	benign
rs2148649878	X:20,185,722	A/C	—	pathogenic
rs2519640130	X:20,185,769	G/A	—	pathogenic
rs1555928716	X:20,185,787	G/A	—	pathogenic
rs2067475470	X:20,185,802	C/G	—	likely pathogenic
rs937495958	X:20,185,826	G/A	—	likely pathogenic
rs1277225078	X:20,185,842	C/T	—	likely benign
rs2148650076	X:20,185,849	T/A	—	uncertain significance
rs768426306	X:20,185,863	T/G	—	benign
rs1603420290	X:20,185,869	T/A	—	likely benign
rs781136878	X:20,185,870	A/G	—	likely benign
rs66701778	X:20,185,939	G/A	—	benign
rs111842784	X:20,186,113	A/G	—	benign
rs113439647	X:20,187,266	C/G	—	benign
rs2067519822	X:20,187,514	A/G	—	uncertain significance
rs2519650153	X:20,187,533	A/T	—	uncertain significance
rs2519650189	X:20,187,541	T/C	—	likely benign
rs1029277503	X:20,187,550	T/C	—	likely benign
rs2148653268	X:20,187,554	T/C	—	uncertain significance
rs2067520557	X:20,187,561	G/C	—	uncertain significance

Showing 100 of 330 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.