DPYSL5

dihydropyrimidinase like 5

Summary

This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

Known Variants59 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2465325092	2:27,071,005	G/T	—	uncertain significance
rs13029206	2:27,077,610	G/A	intron variant	—
rs11887277	2:27,083,269	T/C	intron variant	—
rs112159914	2:27,090,331	T/G	intron variant	—
rs1158285041	2:27,121,367	C/T	—	uncertain significance
rs752901583	2:27,121,389	G/A	—	uncertain significance
rs79644076	2:27,121,394	G/A	—	benign
rs758619423	2:27,121,425	G/A	—	uncertain significance
rs866373727	2:27,121,488	G/A	—	pathogenic
rs2465425280	2:27,121,495	T/A	—	uncertain significance
rs1558337060	2:27,121,506	G/A	—	uncertain significance
rs2465425370	2:27,121,525	C/G	—	uncertain significance
rs2148137082	2:27,121,536	C/T	—	uncertain significance
rs146557773	2:27,121,598	G/A	—	likely benign
rs150828338	2:27,130,764	G/A	intron variant	—
rs150765496	2:27,142,725	T/C	intron variant	—
rs1664791781	2:27,147,805	C/A	—	uncertain significance
rs2465483981	2:27,147,816	C/T	—	uncertain significance
rs367960691	2:27,147,827	G/A	—	likely benign
rs1664793633	2:27,147,842	C/T	—	uncertain significance
rs1239794444	2:27,147,861	A/G	—	uncertain significance
rs753410511	2:27,147,878	G/A	—	uncertain significance
rs746781941	2:27,147,888	T/C	—	uncertain significance
rs199808218	2:27,150,145	G/A	—	uncertain significance
rs775997571	2:27,150,227	A/G	—	uncertain significance
rs769118801	2:27,150,238	G/A	—	likely benign
rs144366814	2:27,150,268	G/A	—	likely benign
rs140591019	2:27,150,297	C/T	—	likely benign
rs2465490398	2:27,150,302	C/T	—	likely benign
rs138085034	2:27,151,158	C/T	—	benign
rs1332583601	2:27,151,168	A/C	—	uncertain significance
rs763871019	2:27,151,171	G/A	—	uncertain significance
rs750711296	2:27,151,174	A/G	—	uncertain significance
rs77562583	2:27,151,643	G/A	—	—
rs1371614	2:27,152,874	C/T	intron variant	—
rs2465501914	2:27,154,529	C/T	—	uncertain significance
rs2465501957	2:27,154,545	C/A	—	uncertain significance
rs756667382	2:27,154,549	C/G	—	uncertain significance
rs151073506	2:27,157,542	C/T	—	likely benign
rs753873507	2:27,157,591	C/G	—	uncertain significance
rs116041614	2:27,157,610	G/A	—	benign
rs7589627	2:27,159,786	C/T	intron variant	—
rs149845636	2:27,162,912	A/G	—	likely benign
rs2465524041	2:27,162,925	A/G	—	uncertain significance
rs769293152	2:27,164,851	G/A	—	uncertain significance
rs200568891	2:27,164,867	A/G	—	uncertain significance
rs750517458	2:27,164,896	C/T	—	likely benign
rs752159624	2:27,164,905	C/T	—	likely benign
rs1665354872	2:27,165,526	G/A	—	uncertain significance
rs1355787627	2:27,165,566	C/T	—	uncertain significance
rs6707735	2:27,166,822	T/A	—	—
rs147494080	2:27,167,383	C/A	intron variant	—
rs1049532272	2:27,167,533	G/A	—	uncertain significance
rs766000162	2:27,167,584	C/T	—	uncertain significance
rs2148178962	2:27,167,599	G/C	—	uncertain significance
rs1279443976	2:27,167,633	G/C	—	uncertain significance
rs747183519	2:27,167,639	T/C	—	likely benign
rs755205638	2:27,169,837	G/A	—	uncertain significance
rs79945326	2:27,170,093	C/A	regulatory region variant	—

Gene information from NCBI Gene. Variant classifications from ClinVar.