PMID: 34561430

Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature communications

Schmidt, Amand F AF, Hunt, Nicholas B NB, Gordillo-Marañón, Maria M, Charoen, Pimphen P, Drenos, Fotios F, Kivimaki, Mika M, Lawlor, Deborah A DA, Giambartolomei, Claudia C, Papacosta, Olia O, Chaturvedi, Nishi N, Bis, Joshua C JC, O'Donnell, Christopher J CJ, Wannamethee, Goya G, Wong, Andrew A, Price, Jackie F JF, Hughes, Alun D AD, Gaunt, Tom R TR, Franceschini, Nora N, Mook-Kanamori, Dennis O DO, Zwierzyna, Magdalena M, Sofat, Reecha R, Hingorani, Aroon D AD, Finan, Chris C

2021-09-24

150 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
16-56996288-G-A	CETP	c.118+279G>A	-	IntronicSNV	-	1/15
16-56996211-G-A	CETP	c.118+202G>A	-	IntronicSNV	-	1/15
16-56996211-G-C	CETP	c.118+202G>C	-	IntronicSNV	-	1/15
16-57005479-C-A	CETP	c.658+186C>A	-	IntronicSNV	-	7/15
16-57011185-G-A	CETP	c.982-818G>A	-	IntronicSNV	-	10/15
1-55509872-T-C	PCSK9	c.399+165T>C	-	IntronicSNV	-	2/11
1-55518752-C-T	PCSK9	c.799+288C>T	-	IntronicSNV	-	5/11
1-55523361-A-G	PCSK9	c.1180+174A>G	-	IntronicSNV	-	7/11
1-55520864-A-G	PCSK9	c.800-802A>G	-	IntronicSNV	-	5/11
1-55524842-G-A	PCSK9	c.1504-317G>A	-	IntronicSNV	-	9/11
1-55517344-C-G	PCSK9	c.524-607C>G	-	IntronicSNV	-	3/11
1-55517344-C-T	PCSK9	c.524-607C>T	-	IntronicSNV	-	3/11
1-55512549-T-A	PCSK9	c.523+230T>A	-	IntronicSNV	-	3/11
1-55512549-T-C	PCSK9	c.523+230T>C	-	IntronicSNV	-	3/11
1-55516004-C-A	PCSK9	c.524-1947C>A	-	IntronicSNV	-	3/11
16-56999328-C-T	CETP	c.233+2292C>T	-	IntronicSNV	-	2/15
16-57016092-G-A	CETP	c.1264G>A	p.V422I	Missense	14/16	-
16-57016092-G-C	CETP	c.1264G>C	p.V422L	Missense	14/16	-
16-57007353-C-T	CETP	c.861C>T	p.F287=	Synonymous	9/16	-
1-55505647-G-A	PCSK9	c.137G>A	p.R46H	Missense	1/12	-
1-55524237-G-A	PCSK9	c.1420G>A	p.V474I	Missense	9/12	-
1-55505668-C-G	PCSK9	c.158C>G	p.A53G	Missense	1/12	-
1-55505668-C-T	PCSK9	c.158C>T	p.A53V	Missense	1/12	-
1-55529187-G-A	PCSK9	c.2009G>A	p.G670E	Missense	12/12	-
1-55521109-G-A	PCSK9	c.800-557G>A	-	IntronicSNV	-	5/11
1-55521109-G-C	PCSK9	c.800-557G>C	-	IntronicSNV	-	5/11
1-55525400-G-A	PCSK9	c.1681+64G>A	-	IntronicSNV	-	10/11
16-57006590-C-G	CETP	c.750+595C>G	-	IntronicSNV	-	8/15
16-57006590-C-T	CETP	c.750+595C>T	-	IntronicSNV	-	8/15
16-57002404-C-A	CETP	c.234-894C>A	-	IntronicSNV	-	2/15
16-56997233-G-A	CETP	c.233+197G>A	-	IntronicSNV	-	2/15
16-57012379-T-G	CETP	c.1146+212T>G	-	IntronicSNV	-	11/15
1-55518467-A-G	PCSK9	c.799+3A>G	-	IntronicSNV	-	5/11
1-55518316-C-T	PCSK9	c.658-7C>T	-	IntronicSNV	-	4/11
1-55524601-G-C	PCSK9	c.1503+281G>C	-	IntronicSNV	-	9/11
1-55514215-G-T	PCSK9	c.523+1896G>T	-	IntronicSNV	-	3/11
1-55528629-G-A	PCSK9	c.1864-413G>A	-	IntronicSNV	-	11/11
1-55524601-G-A	PCSK9	c.1503+281G>A	-	IntronicSNV	-	9/11
1-55524197-A-C	PCSK9	c.1380A>C	p.V460=	Synonymous	9/12	-
1-55524197-A-G	PCSK9	c.1380A>G	p.V460=	Synonymous	9/12	-
16-57004889-G-A	CETP	c.528-56G>A	-	IntronicSNV	-	5/15
16-57007451-G-A	CETP	c.930+29G>A	-	IntronicSNV	-	9/15
16-57014875-A-C	CETP	c.1147-195A>C	-	IntronicSNV	-	11/15
16-57014875-A-G	CETP	c.1147-195A>G	-	IntronicSNV	-	11/15
16-57007610-G-A	CETP	c.930+188G>A	-	IntronicSNV	-	9/15
1-55523984-C-T	PCSK9	c.1354+102C>T	-	IntronicSNV	-	8/11
1-55518166-G-A	PCSK9	c.657+82G>A	-	IntronicSNV	-	4/11
16-56996649-C-A	CETP	c.119-273C>A	-	IntronicSNV	-	1/15
1-55518528-C-A	PCSK9	c.799+64C>A	-	IntronicSNV	-	5/11
16-57017474-G-A	CETP	c.1408-30G>A	-	IntronicSNV	-	15/15
1-55524116-C-A	PCSK9	c.1355-56C>A	-	IntronicSNV	-	8/11
1-55524116-C-G	PCSK9	c.1355-56C>G	-	IntronicSNV	-	8/11
1-55524116-C-T	PCSK9	c.1355-56C>T	-	IntronicSNV	-	8/11
1-55522141-A-G	PCSK9	c.996+279A>G	-	IntronicSNV	-	6/11
1-55527323-G-A	PCSK9	c.1863+94G>A	-	IntronicSNV	-	11/11
16-57009388-G-A	CETP	c.981+325G>A	-	IntronicSNV	-	10/15
1-55516508-A-G	PCSK9	c.524-1443A>G	-	IntronicSNV	-	3/11
16-57005301-C-T	CETP	c.658+8C>T	-	IntronicSNV	-	7/15
16-57017662-G-A	CETP	c.*84G>A	-	3-UTRSNV	16/16	-
16-56996279-C-T	CETP	c.118+270C>T	-	IntronicSNV	-	1/15
16-57001985-A-C	CETP	c.234-1313A>C	-	IntronicSNV	-	2/15
16-57001985-A-T	CETP	c.234-1313A>T	-	IntronicSNV	-	2/15
16-57003146-T-C	CETP	c.234-152T>C	-	IntronicSNV	-	2/15
16-56998918-A-C	CETP	c.233+1882A>C	-	IntronicSNV	-	2/15
16-56998918-A-G	CETP	c.233+1882A>G	-	IntronicSNV	-	2/15
16-56997551-C-T	CETP	c.233+515C>T	-	IntronicSNV	-	2/15
16-56999258-A-C	CETP	c.233+2222A>C	-	IntronicSNV	-	2/15
16-57002732-T-G	CETP	c.234-566T>G	-	IntronicSNV	-	2/15
16-57000885-G-A	CETP	c.234-2413G>A	-	IntronicSNV	-	2/15
16-57001216-C-T	CETP	c.234-2082C>T	-	IntronicSNV	-	2/15
16-57000938-G-A	CETP	c.234-2360G>A	-	IntronicSNV	-	2/15
16-56996158-T-C	CETP	c.118+149T>C	-	IntronicSNV	-	1/15
16-57000284-G-A	CETP	c.234-3014G>A	-	IntronicSNV	-	2/15
16-57000284-G-C	CETP	c.234-3014G>C	-	IntronicSNV	-	2/15
16-56999949-A-G	CETP	c.233+2913A>G	-	IntronicSNV	-	2/15
16-57001438-G-A	CETP	c.234-1860G>A	-	IntronicSNV	-	2/15
16-56997349-C-CA	CETP	c.233+315_233+315dup	-	IntronicInsertion	-	2/15
16-57011936-C-T	CETP	c.982-67C>T	-	IntronicSNV	-	10/15
16-57009985-T-C	CETP	c.981+922T>C	-	IntronicSNV	-	10/15
16-57009388-G-T	CETP	c.981+325G>T	-	IntronicSNV	-	10/15
16-57010486-C-T	CETP	c.981+1423C>T	-	IntronicSNV	-	10/15
16-57007192-T-C	CETP	c.751-51T>C	-	IntronicSNV	-	8/15
16-57011452-G-A	CETP	c.982-551G>A	-	IntronicSNV	-	10/15
16-57012699-A-G	CETP	c.1146+532A>G	-	IntronicSNV	-	11/15
16-57007446-T-A	CETP	c.930+24T>A	-	IntronicSNV	-	9/15
16-57007446-T-G	CETP	c.930+24T>G	-	IntronicSNV	-	9/15
16-57008227-G-A	CETP	c.931-786G>A	-	IntronicSNV	-	9/15
16-57009932-C-T	CETP	c.981+869C>T	-	IntronicSNV	-	10/15
16-57010232-C-T	CETP	c.981+1169C>T	-	IntronicSNV	-	10/15
16-57006378-A-G	CETP	c.750+383A>G	-	IntronicSNV	-	8/15
16-57009941-T-C	CETP	c.981+878T>C	-	IntronicSNV	-	10/15
16-57014610-T-A	CETP	c.1147-460T>A	-	IntronicSNV	-	11/15
16-57014610-T-C	CETP	c.1147-460T>C	-	IntronicSNV	-	11/15
16-57007734-A-C	CETP	c.930+312A>C	-	IntronicSNV	-	9/15
16-57007734-A-G	CETP	c.930+312A>G	-	IntronicSNV	-	9/15
16-57007734-A-T	CETP	c.930+312A>T	-	IntronicSNV	-	9/15
16-57014319-A-G	CETP	c.1147-751A>G	-	IntronicSNV	-	11/15
16-57008048-G-A	CETP	c.930+626G>A	-	IntronicSNV	-	9/15
16-57010948-T-G	CETP	c.982-1055T>G	-	IntronicSNV	-	10/15
16-57008287-A-G	CETP	c.931-726A>G	-	IntronicSNV	-	9/15
16-57017002-T-G	CETP	c.1322-236T>G	-	IntronicSNV	-	14/15
16-57014411-T-C	CETP	c.1147-659T>C	-	IntronicSNV	-	11/15
16-57017319-G-A	CETP	c.1403G>A	p.R468Q	Missense	15/16	-
1-55513061-T-C	PCSK9	c.523+742T>C	-	IntronicSNV	-	3/11
1-55518166-G-C	PCSK9	c.657+82G>C	-	IntronicSNV	-	4/11
1-55518166-G-T	PCSK9	c.657+82G>T	-	IntronicSNV	-	4/11
1-55520265-T-C	PCSK9	c.800-1401T>C	-	IntronicSNV	-	5/11
1-55507649-C-T	PCSK9	c.208-1867C>T	-	IntronicSNV	-	1/11
1-55511471-C-T	PCSK9	c.400-725C>T	-	IntronicSNV	-	2/11
1-55519238-C-T	PCSK9	c.799+774C>T	-	IntronicSNV	-	5/11
1-55527918-C-T	PCSK9	c.1863+689C>T	-	IntronicSNV	-	11/11
1-55519174-G-A	PCSK9	c.799+710G>A	-	IntronicSNV	-	5/11
1-55519174-G-C	PCSK9	c.799+710G>C	-	IntronicSNV	-	5/11
1-55519015-G-A	PCSK9	c.799+551G>A	-	IntronicSNV	-	5/11
1-55519015-G-T	PCSK9	c.799+551G>T	-	IntronicSNV	-	5/11
1-55526428-T-C	PCSK9	c.1682-620T>C	-	IntronicSNV	-	10/11
1-55526428-T-G	PCSK9	c.1682-620T>G	-	IntronicSNV	-	10/11
1-55526296-A-C	PCSK9	c.1682-752A>C	-	IntronicSNV	-	10/11
1-55526296-A-G	PCSK9	c.1682-752A>G	-	IntronicSNV	-	10/11
1-55526685-G-A	PCSK9	c.1682-363G>A	-	IntronicSNV	-	10/11
1-55521242-T-A	PCSK9	c.800-424T>A	-	IntronicSNV	-	5/11
1-55521242-T-G	PCSK9	c.800-424T>G	-	IntronicSNV	-	5/11
1-55521313-G-T	PCSK9	c.800-353G>T	-	IntronicSNV	-	5/11
1-55511995-A-G	PCSK9	c.400-201A>G	-	IntronicSNV	-	2/11
1-55525868-C-T	PCSK9	c.1681+532C>T	-	IntronicSNV	-	10/11
1-55514182-T-C	PCSK9	c.523+1863T>C	-	IntronicSNV	-	3/11
1-55505861-G-A	PCSK9	c.207+144G>A	-	IntronicSNV	-	1/11
1-55505447-C-T	PCSK9	c.1-64C>T	-	5-UTRSNV	1/12	-
1-55525726-T-A	PCSK9	c.1681+390T>A	-	IntronicSNV	-	10/11
1-55525726-T-G	PCSK9	c.1681+390T>G	-	IntronicSNV	-	10/11
1-55505926-C-T	PCSK9	c.207+209C>T	-	IntronicSNV	-	1/11
1-55522674-C-T	PCSK9	c.997-330C>T	-	IntronicSNV	-	6/11
1-55516713-C-T	PCSK9	c.524-1238C>T	-	IntronicSNV	-	3/11
1-55522141-A-C	PCSK9	c.996+279A>C	-	IntronicSNV	-	6/11
1-55511623-T-TC	PCSK9	c.400-568_400-568dup	-	IntronicInsertion	-	2/11
1-55511623-T-TCC	PCSK9	c.400-569_400-568dup	-	IntronicInsertion	-	2/11
16-57006072-G-A	CETP	c.750+77G>A	-	IntronicSNV	-	8/15
1-55520212-G-A	PCSK9	c.800-1454G>A	-	IntronicSNV	-	5/11
16-57006072-G-C	CETP	c.750+77G>C	-	IntronicSNV	-	8/15
16-57005762-C-T	CETP	c.659-142C>T	-	IntronicSNV	-	7/15
16-56996158-T-TG	CETP	c.118+151_118+151dup	-	IntronicInsertion	-	1/15
1-55510971-T-C	PCSK9	c.400-1225T>C	-	IntronicSNV	-	2/11
1-55514158-G-A	PCSK9	c.523+1839G>A	-	IntronicSNV	-	3/11
1-55514158-G-T	PCSK9	c.523+1839G>T	-	IntronicSNV	-	3/11
1-55515537-C-G	PCSK9	c.524-2414C>G	-	IntronicSNV	-	3/11
1-55515537-C-T	PCSK9	c.524-2414C>T	-	IntronicSNV	-	3/11
16-56996647-C-A	CETP	c.119-275C>A	-	IntronicSNV	-	1/15
16-57002118-G-T	CETP	c.234-1180G>T	-	IntronicSNV	-	2/15
16-56999353-C-T	CETP	c.233+2317C>T	-	IntronicSNV	-	2/15
1-55514046-G-T	PCSK9	c.523+1727G>T	-	IntronicSNV	-	3/11