CAV1 c.*456A>C

Variant ID: 7-116199797-A-C

NM_001753.4(CAV1):c.*456A>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs8713
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass.

Genetic Epidemiology
Manduchi, Elisabetta E; Hemerich, Daiane D; van Setten, Jessica J; Tragante, Vinicius V; Harakalova, Magdalena M; Pei, Jiayi J; Williams, Scott M SM; van der Harst, Pim P; Asselbergs, Folkert W FW; Moore, Jason H JH
Publication Date: 2019-09

Variant appearance in text: rs8713
PubMed Link: 31145509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs8713
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs8713
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Deceased donor multidrug resistance protein 1 and caveolin 1 gene variants may influence allograft survival in kidney transplantation.

Kidney International
Ma, Jun J; Divers, Jasmin J; Palmer, Nicholette D ND; Julian, Bruce A BA; Israni, Ajay K AK; Schladt, David D; Pastan, Stephen O SO; Chattrabhuti, Kryt K; Gautreaux, Michael D MD; Hauptfeld, Vera V; Bray, Robert A RA; Kirk, Allan D AD; Brown, W Mark WM; Gaston, Robert S RS; Rogers, Jeffrey J; Farney, Alan C AC; Orlando, Giuseppe G; Stratta, Robert J RJ; Guan, Meijian M; Palanisamy, Amudha A; Reeves-Daniel, Amber M AM; Bowden, Donald W DW; Langefeld, Carl D CD; Hicks, Pamela J PJ; Ma, Lijun L; Freedman, Barry I BI
Publication Date: 2015-09

Variant appearance in text: rs8713
PubMed Link: 25853335
Variant Present in the following documents:
  • Main text
  • nihms669353.pdf
View BVdb publication page



Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Investigative Ophthalmology & Visual Science
Liu, Yutao Y; Hauser, Michael A MA; Akafo, Stephen K SK; Qin, Xuejun X; Miura, Shiroh S; Gibson, Jason R JR; Wheeler, Joshua J; Gaasterland, Douglas E DE; Challa, Pratap P; Herndon, Leon W LW; , ; Ritch, Robert R; Moroi, Sayoko E SE; Pasquale, Louis R LR; Girkin, Christopher A CA; Budenz, Donald L DL; Wiggs, Janey L JL; Richards, Julia E JE; Ashley-Koch, Allison E AE; Allingham, R Rand RR
Publication Date: 2013-09-17

Variant appearance in text: rs8713
PubMed Link: 23963167
Variant Present in the following documents:
  • Main text
View BVdb publication page



MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Permuth-Wey, Jennifer J; Chen, Zhihua Z; Tsai, Ya-Yu YY; Lin, Hui-Yi HY; Chen, Y Ann YA; Barnholtz-Sloan, Jill J; Birrer, Michael J MJ; Chanock, Stephen J SJ; Cramer, Daniel W DW; Cunningham, Julie M JM; Fenstermacher, David D; Fridley, Brooke L BL; Garcia-Closas, Montserrat M; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Gonzalez-Bosquet, Jesus J; Iversen, Edwin E; Jim, Heather H; McLaughlin, John J; Menon, Usha U; Narod, Steven A SA; Phelan, Catherine M CM; Ramus, Susan J SJ; Risch, Harvey H; Song, Honglin H; Sutphen, Rebecca R; Terry, Kathryn L KL; Tyrer, Jonathan J; Vierkant, Robert A RA; Wentzensen, Nicolas N; Lancaster, Johnathan M JM; Cheng, Jin Q JQ; Berchuck, Andrew A; Pharoah, Paul D P PD; Schildkraut, Joellen M JM; Goode, Ellen L EL; Sellers, Thomas A TA; ,
Publication Date: 2011-08

Variant appearance in text: rs8713
PubMed Link: 21636674
Variant Present in the following documents:
  • Main text
View BVdb publication page