MAST3

microtubule associated serine/threonine kinase 3

Summary

Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in cytoskeleton organization and intracellular signal transduction. Predicted to be located in cytoplasm. Implicated in developmental and epileptic encephalopathy 108. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants118 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2037098511	19:18,208,625	G/A	—	uncertain significance
rs11668601	19:18,214,521	T/C	upstream gene variant	—
rs273505	19:18,217,147	T/C	intron variant	—
rs4808745	19:18,217,828	G/T	intron variant	—
rs754592771	19:18,218,425	G/A	—	uncertain significance
rs67234314	19:18,218,610	A/T	intron variant	—
rs11666424	19:18,218,899	A/C	—	—
rs273506	19:18,221,647	C/T	regulatory region variant	—
rs192709255	19:18,224,476	T/C	intron variant	—
rs62123566	19:18,226,606	C/A	intron variant	—
rs56252442	19:18,229,208	G/T	regulatory region variant	—
rs770183365	19:18,232,511	C/T	—	uncertain significance
rs2040004769	19:18,232,553	C/G	—	uncertain significance
rs1289995797	19:18,232,572	C/T	—	uncertain significance
rs939192292	19:18,233,501	G/T	—	uncertain significance
rs2512955299	19:18,233,564	A/G	—	uncertain significance
rs1220614580	19:18,234,106	A/G	—	uncertain significance
rs370052741	19:18,234,144	G/A	—	likely benign
rs781661671	19:18,234,156	C/T	—	likely benign
rs371335451	19:18,234,415	G/A	—	uncertain significance
rs780342824	19:18,234,420	T/G	—	uncertain significance
rs774221250	19:18,234,771	G/A	—	likely benign
rs56022120	19:18,234,789	C/T	—	benign
rs1457074231	19:18,234,798	C/T	—	uncertain significance
rs35945810	19:18,234,810	G/A	—	likely benign
rs769306519	19:18,235,097	A/G	—	uncertain significance
rs2512989027	19:18,235,144	A/G	—	uncertain significance
rs752925987	19:18,235,492	C/T	—	uncertain significance
rs56338130	19:18,235,871	C/T	intron variant	—
rs1811241	19:18,235,882	A/T	—	—
rs72999449	19:18,237,050	A/T	intron variant	—
rs2513066876	19:18,239,218	C/T	—	uncertain significance
rs535330582	19:18,239,248	C/G	—	likely benign
rs368792175	19:18,239,679	C/T	—	likely benign
rs1050433752	19:18,241,304	G/A	—	likely benign
rs200890994	19:18,241,327	G/A	—	likely benign
rs374936757	19:18,241,341	C/T	—	uncertain significance
rs2147368579	19:18,241,362	A/G	—	uncertain significance
rs1227043449	19:18,241,384	G/C	—	pathogenic
rs2513111951	19:18,241,389	C/A	—	uncertain significance
rs774070657	19:18,241,477	G/A	—	uncertain significance
rs55774461	19:18,241,516	C/T	—	uncertain significance
rs11666906	19:18,241,898	A/G	intron variant	—
rs2513138763	19:18,242,743	A/G	—	uncertain significance
rs752071882	19:18,242,748	A/G	—	uncertain significance
rs750740963	19:18,242,763	G/A	—	uncertain significance
rs2513140295	19:18,242,841	G/C	—	uncertain significance
rs2513188224	19:18,245,408	G/T	—	uncertain significance
rs772530453	19:18,245,424	C/T	—	uncertain significance
rs1478088223	19:18,245,432	G/A	—	conflicting classifications of pathogenicity
rs2041698726	19:18,245,447	G/A	—	pathogenic
rs2513188826	19:18,245,451	T/C	—	pathogenic
rs16982210	19:18,245,506	G/A	—	benign
rs2270623	19:18,245,512	T/C	—	benign
rs2513193823	19:18,245,657	G/A	—	uncertain significance
rs2513193892	19:18,245,660	G/T	—	pathogenic
rs769818113	19:18,245,669	C/T	—	uncertain significance
rs188187756	19:18,245,711	G/A	—	likely benign
rs12983325	19:18,245,807	C/T	—	benign
rs2513211577	19:18,246,576	G/A	—	uncertain significance
rs114008773	19:18,246,593	C/T	—	benign
rs2513211988	19:18,246,603	C/T	—	uncertain significance
rs767928225	19:18,246,610	C/T	—	uncertain significance
rs2041982393	19:18,248,117	A/T	—	uncertain significance
rs2513239584	19:18,248,161	C/G	—	uncertain significance
rs369340521	19:18,249,865	C/G	—	likely benign
rs777707144	19:18,249,866	G/A	—	uncertain significance
rs4808751	19:18,252,292	C/T	downstream gene variant	—
rs755647860	19:18,252,731	C/T	—	uncertain significance
rs773549676	19:18,252,765	G/A	—	uncertain significance
rs377729320	19:18,252,798	A/G	—	uncertain significance
rs779185013	19:18,252,824	C/T	—	uncertain significance
rs746822323	19:18,254,742	C/T	—	uncertain significance
rs774842710	19:18,254,763	C/G	—	likely benign
rs756555839	19:18,254,781	G/T	—	likely benign
rs766518442	19:18,254,782	C/T	—	uncertain significance
rs761058921	19:18,255,303	G/A	—	uncertain significance
rs933845206	19:18,255,323	G/A	—	uncertain significance
rs2513420884	19:18,255,329	C/T	—	uncertain significance
rs8108738	19:18,255,359	G/A	missense variant	benign
rs893811504	19:18,255,366	G/A	—	uncertain significance
rs1338300434	19:18,255,372	G/A	—	uncertain significance
rs760960794	19:18,255,381	G/T	—	uncertain significance
rs369960905	19:18,255,425	G/A	—	likely benign
rs753778791	19:18,255,493	C/G	—	uncertain significance
rs374003889	19:18,255,500	G/A	—	uncertain significance
rs2513435358	19:18,255,828	G/A	—	uncertain significance
rs1452121136	19:18,255,882	G/C	—	uncertain significance
rs752684786	19:18,255,900	G/A	—	uncertain significance
rs751108440	19:18,255,906	C/T	—	uncertain significance
rs745450510	19:18,255,914	G/A	—	uncertain significance
rs780553192	19:18,255,929	C/T	—	likely benign
rs375981013	19:18,255,930	G/A	—	uncertain significance
rs767135252	19:18,256,010	G/A	—	uncertain significance
rs755807326	19:18,256,013	G/A	—	uncertain significance
rs777805170	19:18,256,034	G/A	—	uncertain significance
rs540792121	19:18,256,584	C/T	—	uncertain significance
rs377575167	19:18,256,595	G/T	—	uncertain significance
rs375871256	19:18,256,665	T/G	—	uncertain significance
rs1046504298	19:18,257,706	T/A	—	uncertain significance

Showing 100 of 118 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.