CORIN c.1615C>T ;(p.R539C)

Variant ID: 4-47663848-G-A

NM_006587.3(CORIN):c.1615C>T;(p.R539C)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Corin: A Key Mediator in Sodium Homeostasis, Vascular Remodeling, and Heart Failure.

Biology
Zhang, Xianrui X; Gu, Xiabing X; Zhang, Yikai Y; Dong, Ningzheng N; Wu, Qingyu Q
Publication Date: 2022-05-07

Variant appearance in text: CORIN: R539C
PubMed Link: 35625445
Variant Present in the following documents:
  • biology-11-00717.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: CORIN: R539C; rs201223301
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Single-Nucleotide Polymorphisms in the 3' Untranslated Region of CORIN Associated With Cardiovascular Diseases in a Chinese Han Population: A Case-Control Study.

Frontiers In Cardiovascular Medicine
Zhao, Yichang Y; Yuan, Xiaoyang X; Zhong, Yang Y; Zhang, Yutao Y; Zhang, Shushan S; Li, Sisi S; Zhao, Yuanyuan Y; Zheng, Wenjun W; Liu, Jinqiu J; Xia, Yunlong Y; Yang, Yanzong Y; Liu, Ying Y; Chen, Feifei F
Publication Date: 2021

Variant appearance in text: CORIN: R539C
PubMed Link: 34409072
Variant Present in the following documents:
  • fcvm-08-625072.pdf
View BVdb publication page



The protease corin regulates electrolyte homeostasis in eccrine sweat glands.

Plos Biology
He, Meiling M; Zhou, Tiantian T; Niu, Yayan Y; Feng, Wansheng W; Gu, Xiabing X; Xu, Wenting W; Zhang, Shengnan S; Wang, Zhiting Z; Zhang, Yue Y; Wang, Can C; Dong, Liang L; Liu, Meng M; Dong, Ningzheng N; Wu, Qingyu Q
Publication Date: 2021-02

Variant appearance in text: CORIN: R539C
PubMed Link: 33591965
Variant Present in the following documents:
  • Main text
  • pbio.3001090.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: CORIN: R539C
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: CORIN: 1615C>T; R539C
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Associations between potentially functional CORIN SNPs and serum corin levels in the Chinese Han population.

Bmc Genetics
Zhang, Huan H; Mo, Xingbo X; Qian, Qiyu Q; Zhou, Zhengyuan Z; Zhu, Zhengbao Z; HuangFu, Xinfeng X; Xu, Tan T; Wang, Aili A; Guo, Zhirong Z; Lei, Shufeng S; Zhang, Yonghong Y
Publication Date: 2019-12-19

Variant appearance in text: CORIN: R539C
PubMed Link: 31856714
Variant Present in the following documents:
  • 12863_2019_Article_802.pdf
View BVdb publication page



Cross-linking, Immunoprecipitation and Proteomic Analysis to Identify Interacting Proteins in Cultured Cells.

Bio-Protocol
Wang, Hao H; He, Meiling M; Willard, Belinda B; Wu, Qingyu Q
Publication Date: 2019-06-05

Variant appearance in text: CORIN: R539C
PubMed Link: 31528665
Variant Present in the following documents:
  • BioProtoc-9-11-3258.pdf
View BVdb publication page



Molecular Implications of Natriuretic Peptides in the Protection from Hypertension and Target Organ Damage Development.

International Journal Of Molecular Sciences
Rubattu, Speranza S; Forte, Maurizio M; Marchitti, Simona S; Volpe, Massimo M
Publication Date: 2019-02-13

Variant appearance in text: CORIN: R539C
PubMed Link: 30781751
Variant Present in the following documents:
  • ijms-20-00798.pdf
View BVdb publication page



Serum Corin Level Is Associated With Subsequent Decline in Renal Function in Patients With Suspected Coronary Artery Disease.

Journal Of The American Heart Association
Yang, Shang-Feng SF; Chou, Ruey-Hsing RH; Li, Szu-Yuan SY; Huang, Shao-Sung SS; Huang, Po-Hsun PH
Publication Date: 2018-05-04

Variant appearance in text: CORIN: R539C
PubMed Link: 29728370
Variant Present in the following documents:
  • Main text
  • JAH3-7-e008157.pdf
View BVdb publication page



Pharmacogenomics of the Natriuretic Peptide System in Heart Failure.

Current Heart Failure Reports
Abuzaanona, Ahmed A; Lanfear, David D
Publication Date: 2017-12

Variant appearance in text: CORIN: R539C
PubMed Link: 29075957
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and functional analysis of CORIN variants in hypertensive patients.

Human Mutation
Zhang, Yue Y; Zhou, Tiantian T; Niu, Yayan Y; He, Meiling M; Wang, Can C; Liu, Meng M; Yang, Junhua J; Zhang, Yonghong Y; Zhou, Jianping J; Fukuda, Koichi K; Qin, Jun J; Dong, Ningzheng N; Wu, Qingyu Q
Publication Date: 2017-12

Variant appearance in text: CORIN: Arg539Cys
PubMed Link: 28861913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of corin in the regulation of blood pressure.

Current Opinion In Nephrology And Hypertension
Li, Hui H; Zhang, Yue Y; Wu, Qingyu Q
Publication Date: 2017-03

Variant appearance in text: CORIN: R539C
PubMed Link: 27898523
Variant Present in the following documents:
  • Main text
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: CORIN: R539C
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



PCSK6-mediated corin activation is essential for normal blood pressure.

Nature Medicine
Chen, Shenghan S; Cao, Pengxiu P; Dong, Ningzheng N; Peng, Jianhao J; Zhang, Chunyi C; Wang, Hao H; Zhou, Tiantian T; Yang, Junhua J; Zhang, Yue Y; Martelli, Elizabeth E EE; Naga Prasad, Sathyamangla V SV; Miller, Rachel E RE; Malfait, Anne-Marie AM; Zhou, Yiqing Y; Wu, Qingyu Q
Publication Date: 2015-09

Variant appearance in text: CORIN: R539C
PubMed Link: 26259032
Variant Present in the following documents:
  • Main text
View BVdb publication page



A corin variant identified in hypertensive patients that alters cytoplasmic tail and reduces cell surface expression and activity.

Scientific Reports
Zhang, Yue Y; Li, Hui H; Zhou, Jianping J; Wang, Aili A; Yang, Junhua J; Wang, Can C; Liu, Meng M; Zhou, Tiantian T; Zhu, Li L; Zhang, Yonghong Y; Dong, Ningzheng N; Wu, Qingyu Q
Publication Date: 2014-12-09

Variant appearance in text: CORIN: R539C
PubMed Link: 25488193
Variant Present in the following documents:
  • srep07378.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: CORIN: R539C
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Corin mutations K317E and S472G from preeclamptic patients alter zymogen activation and cell surface targeting. [Corrected].

The Journal Of Biological Chemistry
Dong, Ningzheng N; Zhou, Tiantian T; Zhang, Yue Y; Liu, Meng M; Li, Hui H; Huang, Xiaoyi X; Liu, Zhenzhen Z; Wu, Yi Y; Fukuda, Koichi K; Qin, Jun J; Wu, Qingyu Q
Publication Date: 2014-06-20

Variant appearance in text: CORIN: R539C
PubMed Link: 24828501
Variant Present in the following documents:
  • Main text
View BVdb publication page



Corin mutation R539C from hypertensive patients impairs zymogen activation and generates an inactive alternative ectodomain fragment.

The Journal Of Biological Chemistry
Dong, Ningzheng N; Fang, Chaodong C; Jiang, Yizhi Y; Zhou, Tiantian T; Liu, Meng M; Zhou, Jianping J; Shen, Jianzhong J; Fukuda, Koichi K; Qin, Jun J; Wu, Qingyu Q
Publication Date: 2013-03-15

Variant appearance in text: CORIN: R539C
PubMed Link: 23372161
Variant Present in the following documents:
  • Main text
View BVdb publication page



The mutational landscape of lethal castration-resistant prostate cancer.

Nature
Grasso, Catherine S CS; Wu, Yi-Mi YM; Robinson, Dan R DR; Cao, Xuhong X; Dhanasekaran, Saravana M SM; Khan, Amjad P AP; Quist, Michael J MJ; Jing, Xiaojun X; Lonigro, Robert J RJ; Brenner, J Chad JC; Asangani, Irfan A IA; Ateeq, Bushra B; Chun, Sang Y SY; Siddiqui, Javed J; Sam, Lee L; Anstett, Matt M; Mehra, Rohit R; Prensner, John R JR; Palanisamy, Nallasivam N; Ryslik, Gregory A GA; Vandin, Fabio F; Raphael, Benjamin J BJ; Kunju, Lakshmi P LP; Rhodes, Daniel R DR; Pienta, Kenneth J KJ; Chinnaiyan, Arul M AM; Tomlins, Scott A SA
Publication Date: 2012-07-12

Variant appearance in text: CORIN: R539C
PubMed Link: 22722839
Variant Present in the following documents:
  • NIHMS368879-supplement-2.xlsx, sheet 4
View BVdb publication page