ASXL3

ASXL transcriptional regulator 3

Summary

This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]

Known Variants546 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs141022157	18:31,158,233	C/A	—	benign
rs773417248	18:31,158,624	G/A	—	uncertain significance
rs2511301336	18:31,158,631	G/A	—	likely pathogenic
rs116955773	18:31,158,955	T/C	—	benign
rs7227658	18:31,162,373	T/A	upstream gene variant	—
rs7226575	18:31,168,982	T/C	intron variant	—
rs199845849	18:31,187,518	T/C	—	benign
rs1403183821	18:31,187,564	G/A	—	uncertain significance
rs555478574	18:31,187,570	C/T	—	uncertain significance
rs2145123853	18:31,187,575	C/T	—	uncertain significance
rs4799350	18:31,187,706	G/A	—	benign
rs726145	18:31,187,910	C/A	—	benign
rs140073388	18:31,187,934	T/G	—	likely benign
rs190074047	18:31,206,889	A/G	—	benign
rs8084619	18:31,208,660	T/A	intron variant	—
rs2510903550	18:31,224,913	G/A	—	uncertain significance
rs371104233	18:31,224,915	G/A	—	benign
rs1054594301	18:31,224,947	C/T	—	likely benign
rs753502146	18:31,224,976	A/G	—	likely benign
rs4799705	18:31,225,030	G/T	—	benign
rs76463016	18:31,225,146	A/G	—	likely benign
rs8094522	18:31,226,000	A/G	—	benign
rs9964810	18:31,226,058	C/T	—	benign
rs74514675	18:31,226,059	G/A	—	likely benign
rs371806703	18:31,226,220	G/A	—	likely benign
rs1313848346	18:31,226,234	A/G	—	uncertain significance
rs775048629	18:31,226,276	C/A	—	uncertain significance
rs2145202045	18:31,226,294	A/C	—	uncertain significance
rs757693785	18:31,226,297	C/A	—	likely benign
rs185064410	18:31,226,298	C/T	—	likely benign
rs1440478761	18:31,226,299	C/T	—	uncertain significance
rs371996020	18:31,226,313	T/C	—	benign
rs1941705	18:31,226,574	C/T	—	benign
rs138932253	18:31,226,599	A/G	—	benign
rs9304126	18:31,241,497	C/G	—	benign
rs2066175125	18:31,241,588	A/C	—	uncertain significance
rs2510921118	18:31,241,604	A/G	—	uncertain significance
rs747032112	18:31,241,618	C/A	—	uncertain significance
rs373139407	18:31,241,634	C/T	—	likely benign
rs769668170	18:31,241,643	C/T	—	likely benign
rs2510921336	18:31,241,688	A/G	—	uncertain significance
rs16964834	18:31,241,768	G/C	—	benign
rs764955	18:31,241,832	A/T	—	likely benign
rs115635581	18:31,241,852	A/G	—	likely benign
rs183326079	18:31,241,870	A/G	—	likely benign
rs72961945	18:31,241,955	C/T	—	benign
rs55916387	18:31,246,244	A/G	intron variant	—
rs2145253839	18:31,250,652	C/T	—	likely pathogenic
rs771392993	18:31,250,670	G/A	—	likely benign
rs201872027	18:31,250,673	T/C	—	likely benign
rs765379399	18:31,250,679	A/G	—	likely benign
rs1382203896	18:31,250,726	G/A	—	uncertain significance
rs755997232	18:31,250,747	G/C	—	likely benign
rs28557140	18:31,250,928	C/T	—	benign
rs11081818	18:31,251,088	G/A	—	benign
rs115298960	18:31,251,420	C/T	—	likely benign
rs1310632595	18:31,251,728	G/A	—	uncertain significance
rs201134613	18:31,251,736	A/T	—	likely benign
rs1475880373	18:31,251,756	T/C	—	uncertain significance
rs2510931435	18:31,251,771	A/C	—	uncertain significance
rs777349365	18:31,251,781	T/C	—	likely benign
rs2510931500	18:31,251,790	A/G	—	uncertain significance
rs560314081	18:31,251,803	T/C	—	likely benign
rs1302254196	18:31,251,809	C/A	—	uncertain significance
rs1350393309	18:31,251,810	G/A	—	uncertain significance
rs2145256753	18:31,251,835	G/C	—	likely pathogenic
rs10468908	18:31,251,987	C/T	—	benign
rs1941696	18:31,252,129	G/A	—	benign
rs8086318	18:31,263,320	A/G	—	benign
rs188107136	18:31,263,329	G/T	—	benign
rs752500611	18:31,263,331	C/T	—	benign
rs2066546212	18:31,263,456	A/G	—	uncertain significance
rs886044334	18:31,263,526	T/A	—	uncertain significance
rs1411906940	18:31,263,528	G/A	—	uncertain significance
rs2145285867	18:31,263,532	G/A	—	uncertain significance
rs62092392	18:31,263,603	A/G	—	benign
rs8086676	18:31,263,801	A/G	—	benign
rs4799710	18:31,266,741	A/T	—	—
rs4799713	18:31,276,884	A/T	intron variant	—
rs7231911	18:31,279,434	T/A	—	—
rs9952522	18:31,286,129	C/T	intron variant	—
rs1941704	18:31,287,075	G/A	intron variant	—
rs1941685	18:31,304,318	G/C	—	—
rs193195531	18:31,311,916	C/T	—	benign
rs1225332574	18:31,311,963	C/A	—	uncertain significance
rs2510907529	18:31,311,985	C/A	—	uncertain significance
rs1175570538	18:31,311,993	A/G	—	uncertain significance
rs2145397060	18:31,312,005	G/T	—	uncertain significance
rs2067458524	18:31,312,026	A/G	—	uncertain significance
rs10432168	18:31,312,106	C/T	—	benign
rs7504560	18:31,312,148	G/A	—	benign
rs73955196	18:31,313,964	C/T	—	benign
rs12605642	18:31,313,965	G/T	—	benign
rs113629853	18:31,314,158	T/C	—	likely benign
rs34501189	18:31,314,196	A/G	—	benign
rs145846793	18:31,314,257	T/G	—	benign
rs375974767	18:31,314,287	A/G	—	benign
rs765803411	18:31,314,300	C/T	—	uncertain significance
rs111494780	18:31,314,353	A/G	—	benign
rs2510910522	18:31,314,356	C/A	—	uncertain significance

Showing 100 of 546 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.