NPPA

natriuretic peptide A

Summary

The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]

Known Variants126 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs61764044	1:11,905,851	A/G	—	benign
rs5068	1:11,905,974	A/G	regulatory region variant	benign
rs5067	1:11,905,981	A/G	regulatory region variant	benign
rs5066	1:11,905,995	A/C	—	benign
rs587776851	1:11,906,065	—	—	pathogenic
rs5065	1:11,906,068	A/G	stop lost	benign
rs1645066196	1:11,906,075	C/A	—	likely benign
rs776697644	1:11,906,080	A/C	—	likely benign
rs2523206493	1:11,906,087	A/G	—	likely benign
rs1246253610	1:11,906,089	A/T	—	likely benign
rs12744757	1:11,906,821	C/T	downstream gene variant	—
rs198368	1:11,906,913	C/G	—	benign
rs198369	1:11,906,960	T/C	—	benign
rs198370	1:11,906,981	T/C	—	benign
rs755675880	1:11,907,150	C/T	—	likely benign
rs1557442690	1:11,907,154	C/T	—	likely benign
rs1475348735	1:11,907,162	C/T	—	likely benign
rs202102042	1:11,907,171	C/T	missense variant	pathogenic
rs778138090	1:11,907,172	G/A	—	uncertain significance
rs1645074117	1:11,907,173	G/C	—	uncertain significance
rs1425906099	1:11,907,179	G/A	—	likely benign
rs1645074158	1:11,907,185	G/A	—	likely benign
rs747448548	1:11,907,194	G/A	—	likely benign
rs781197146	1:11,907,195	C/T	—	uncertain significance
rs769872661	1:11,907,197	C/T	—	likely benign
rs762638785	1:11,907,207	A/G	—	uncertain significance
rs1410717046	1:11,907,210	C/T	—	uncertain significance
rs768567024	1:11,907,227	G/T	—	uncertain significance
rs774295577	1:11,907,230	G/A	—	likely benign
rs372868878	1:11,907,233	G/A	—	likely benign
rs1803268	1:11,907,243	C/T	—	uncertain significance
rs760273901	1:11,907,244	G/A	—	uncertain significance
rs765926210	1:11,907,245	C/T	—	likely benign
rs978766447	1:11,907,248	G/T	—	uncertain significance
rs1215729892	1:11,907,250	T/C	—	uncertain significance
rs1278439312	1:11,907,252	C/T	—	uncertain significance
rs377057675	1:11,907,253	G/T	—	uncertain significance
rs1645074788	1:11,907,257	G/A	—	likely benign
rs1176047776	1:11,907,262	T/C	—	uncertain significance
rs147081122	1:11,907,268	G/T	—	likely benign
rs1473148185	1:11,907,269	C/T	—	likely benign
rs72639212	1:11,907,270	G/A	—	uncertain significance
rs745922613	1:11,907,273	C/T	—	uncertain significance
rs948758051	1:11,907,282	C/G	—	uncertain significance
rs756271433	1:11,907,283	T/C	—	uncertain significance
rs1645075083	1:11,907,284	T/C	—	likely benign
rs2523210955	1:11,907,291	A/G	—	uncertain significance
rs749463507	1:11,907,293	G/A	—	likely benign
rs369737600	1:11,907,300	C/T	—	uncertain significance
rs772104828	1:11,907,301	G/A	—	uncertain significance
rs773332563	1:11,907,304	C/G	—	uncertain significance
rs1570552225	1:11,907,315	C/T	—	uncertain significance
rs1431017846	1:11,907,323	C/G	—	likely benign
rs142022010	1:11,907,328	C/T	—	likely benign
rs941079012	1:11,907,329	G/A	—	likely benign
rs764899433	1:11,907,339	C/A	—	uncertain significance
rs148193368	1:11,907,341	A/C	—	uncertain significance
rs201879717	1:11,907,348	T/C	—	likely benign
rs1645075648	1:11,907,354	G/T	—	uncertain significance
rs1645075676	1:11,907,356	G/A	—	likely benign
rs1557442880	1:11,907,365	C/T	—	likely benign
rs749353276	1:11,907,367	C/T	—	uncertain significance
rs755212754	1:11,907,368	G/A	—	likely benign
rs1645075811	1:11,907,370	T/G	—	uncertain significance
rs747934586	1:11,907,378	G/C	—	uncertain significance
rs1645076017	1:11,907,395	G/T	—	uncertain significance
rs1278794912	1:11,907,396	C/T	—	uncertain significance
rs2523211410	1:11,907,403	C/T	—	uncertain significance
rs764844383	1:11,907,410	C/T	—	likely benign
rs13305987	1:11,907,411	G/A	—	uncertain significance
rs1433555315	1:11,907,412	C/A	—	uncertain significance
rs376184349	1:11,907,414	T/G	—	uncertain significance
rs767807184	1:11,907,422	C/T	—	likely benign
rs150794709	1:11,907,423	G/A	—	conflicting classifications of pathogenicity
rs201250969	1:11,907,424	G/T	—	likely benign
rs61757261	1:11,907,430	T/G	missense variant	likely benign
rs951621848	1:11,907,433	G/T	—	uncertain significance
rs779265393	1:11,907,441	G/C	—	uncertain significance
rs759999149	1:11,907,444	G/A	—	uncertain significance
rs768114654	1:11,907,448	C/T	—	uncertain significance
rs61757262	1:11,907,449	G/A	—	likely benign
rs941150669	1:11,907,455	A/C	—	uncertain significance
rs769357518	1:11,907,461	T/C	—	likely benign
rs1278041804	1:11,907,466	G/A	—	uncertain significance
rs984830140	1:11,907,471	T/A	—	uncertain significance
rs762538922	1:11,907,480	A/C	—	uncertain significance
rs148712945	1:11,907,485	G/A	—	likely benign
rs760988004	1:11,907,486	T/C	—	uncertain significance
rs1349052866	1:11,907,501	A/G	—	likely benign
rs574725428	1:11,907,503	A/G	—	likely benign
rs2523211768	1:11,907,508	G/A	—	likely benign
rs373867029	1:11,907,516	A/G	—	likely benign
rs72639211	1:11,907,567	C/T	—	benign
rs761089549	1:11,907,602	C/G	—	likely benign
rs5064	1:11,907,603	G/A	coding sequence variant	benign
rs765876096	1:11,907,612	G/A	—	likely benign
rs147962789	1:11,907,619	C/G	—	uncertain significance
rs1645078375	1:11,907,624	A/G	—	uncertain significance
rs1370392073	1:11,907,628	C/T	—	uncertain significance
rs763172985	1:11,907,629	A/C	—	uncertain significance

Showing 100 of 126 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.