AHNAK

AHNAK nucleoprotein

Summary

The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]

Known Variants512 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs529615317	11:62,201,363	C/A	—	benign
rs555456715	11:62,203,034	G/A	—	—
rs189050336	11:62,218,426	G/A	—	—
rs12275571	11:62,222,245	T/A	intron variant	—
rs146959769	11:62,252,355	G/A	intron variant	—
rs149628045	11:62,258,385	G/A	—	—
rs202015820	11:62,259,222	C/T	—	likely benign
rs186457938	11:62,259,232	C/T	—	likely benign
rs199527649	11:62,259,235	G/A	—	likely benign
rs147937945	11:62,259,282	G/C	—	benign
rs372112817	11:62,259,301	G/A	—	likely benign
rs373911183	11:62,284,295	G/A	—	uncertain significance
rs142839608	11:62,284,305	G/C	—	benign
rs528156388	11:62,284,365	C/T	—	uncertain significance
rs377131585	11:62,284,386	G/T	—	uncertain significance
rs896599764	11:62,284,446	C/T	—	uncertain significance
rs116528762	11:62,284,469	G/A	—	benign
rs139479070	11:62,284,502	G/A	—	benign
rs776518675	11:62,284,548	T/C	—	uncertain significance
rs778213771	11:62,284,565	T/G	—	uncertain significance
rs149663018	11:62,284,595	T/G	—	uncertain significance
rs2495596367	11:62,284,670	T/G	—	uncertain significance
rs1303965754	11:62,284,769	A/G	—	uncertain significance
rs111551528	11:62,284,792	T/C	—	likely benign
rs2495598133	11:62,284,855	C/T	—	uncertain significance
rs2495598282	11:62,284,880	C/T	—	uncertain significance
rs566869163	11:62,284,898	G/C	—	uncertain significance
rs1160374874	11:62,284,935	C/T	—	uncertain significance
rs1279690039	11:62,284,980	C/G	—	uncertain significance
rs1940063047	11:62,285,012	C/T	—	uncertain significance
rs2495599424	11:62,285,024	G/A	—	uncertain significance
rs1940063517	11:62,285,042	C/T	—	uncertain significance
rs754892144	11:62,285,160	T/C	—	uncertain significance
rs1940071634	11:62,285,175	C/T	—	uncertain significance
rs377246595	11:62,285,180	G/A	—	likely benign
rs1294109993	11:62,285,181	C/T	—	uncertain significance
rs747710243	11:62,285,184	C/T	—	uncertain significance
rs149505116	11:62,285,208	A/C	—	uncertain significance
rs2134191589	11:62,285,268	T/G	—	uncertain significance
rs772869715	11:62,285,271	C/T	—	uncertain significance
rs141151380	11:62,285,402	C/T	—	likely benign
rs373415392	11:62,285,496	G/A	—	uncertain significance
rs112663036	11:62,285,571	C/T	—	likely benign
rs145433832	11:62,285,621	T/C	—	uncertain significance
rs370676825	11:62,285,635	G/A	—	likely benign
rs61625484	11:62,285,665	C/T	—	benign
rs370405541	11:62,285,697	C/T	—	uncertain significance
rs372818224	11:62,285,891	C/T	—	uncertain significance
rs148636883	11:62,285,912	G/A	—	conflicting classifications of pathogenicity
rs201931126	11:62,286,000	C/T	—	likely benign
rs2495607678	11:62,286,006	G/A	—	uncertain significance
rs116243978	11:62,286,165	C/G	—	benign
rs763253490	11:62,286,260	C/T	—	uncertain significance
rs116797830	11:62,286,335	G/A	—	uncertain significance
rs763164549	11:62,286,369	T/C	—	uncertain significance
rs368268712	11:62,286,476	G/A	—	uncertain significance
rs199553669	11:62,286,495	C/T	—	uncertain significance
rs1367687460	11:62,286,500	T/G	—	uncertain significance
rs1343715967	11:62,286,543	C/T	—	uncertain significance
rs2495611809	11:62,286,570	G/C	—	uncertain significance
rs114515655	11:62,286,666	T/C	—	benign
rs144349823	11:62,286,674	T/C	—	uncertain significance
rs1940140681	11:62,286,708	C/G	—	uncertain significance
rs1940143321	11:62,286,768	C/T	—	uncertain significance
rs144809467	11:62,286,815	A/G	—	uncertain significance
rs1940144348	11:62,286,816	T/C	—	uncertain significance
rs759117468	11:62,286,871	G/A	—	likely benign
rs140189854	11:62,286,893	G/A	—	uncertain significance
rs574115758	11:62,286,983	T/A	—	uncertain significance
rs1301555421	11:62,287,009	G/A	—	likely benign
rs144568581	11:62,287,028	A/G	—	uncertain significance
rs755357906	11:62,287,071	C/T	—	uncertain significance
rs145752851	11:62,287,085	G/A	—	uncertain significance
rs907678698	11:62,287,086	G/A	—	uncertain significance
rs199870702	11:62,287,089	C/A	—	uncertain significance
rs140363085	11:62,287,107	G/A	—	uncertain significance
rs762623832	11:62,287,110	C/T	—	likely benign
rs761736875	11:62,287,224	G/A	—	uncertain significance
rs2495617637	11:62,287,305	T/C	—	uncertain significance
rs1375432858	11:62,287,316	A/G	—	uncertain significance
rs1210337996	11:62,287,329	C/A	—	uncertain significance
rs747868910	11:62,287,364	A/T	—	uncertain significance
rs746907956	11:62,287,385	G/A	—	uncertain significance
rs1248160654	11:62,287,393	C/T	—	likely benign
rs1478061372	11:62,287,399	T/C	—	likely benign
rs141073062	11:62,287,402	G/A	—	likely benign
rs1230458083	11:62,287,426	T/A	—	likely benign
rs752015650	11:62,287,427	G/A	—	uncertain significance
rs757751968	11:62,287,430	A/G	—	uncertain significance
rs200960440	11:62,287,438	G/A	—	likely benign
rs776662461	11:62,287,453	C/T	—	likely benign
rs201426270	11:62,287,454	G/A	—	uncertain significance
rs199992585	11:62,287,462	G/A	—	likely benign
rs767887591	11:62,287,468	G/A	—	likely benign
rs764643807	11:62,287,494	C/G	—	uncertain significance
rs148186265	11:62,287,497	G/A	—	uncertain significance
rs1204857695	11:62,287,498	A/G	—	likely benign
rs1262989587	11:62,287,501	T/C	—	likely benign
rs141139317	11:62,287,518	G/T	—	uncertain significance
rs773628400	11:62,287,560	G/A	—	uncertain significance

Showing 100 of 512 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.