CASR c.1732+16T>C

Variant ID: 3-122001099-T-C

NM_000388.3(CASR):c.1732+16T>C

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2270916
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: CASR: 1732+16T>C; rs2270916
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs2270916
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: CASR: 1732+16T>C; rs2270916
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs2270916
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2270916
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The good, the bad, and the ugly of calcium supplementation: a review of calcium intake on human health.

Clinical Interventions In Aging
Li, Kelvin K; Wang, Xia-Fang XF; Li, Ding-You DY; Chen, Yuan-Cheng YC; Zhao, Lan-Juan LJ; Liu, Xiao-Gang XG; Guo, Yan-Fang YF; Shen, Jie J; Lin, Xu X; Deng, Jeffrey J; Zhou, Rou R; Deng, Hong-Wen HW
Publication Date: 2018

Variant appearance in text: rs2270916
PubMed Link: 30568435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs2270916
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population.

Medicine
Zhou, Hai H; Huang, Huaxing H; You, Zebin Z; Shadhu, Kamleshsingh K; Ramlagun, Dadhija D; Qiang, Cao C; Li, Pu P; Qi, Lezhong L; Shen, Yuyong Y; Zhou, Ming M; Chen, Yuming Y; Fei, Shangchun S; Wang, Xiaoxiang X
Publication Date: 2018-11

Variant appearance in text: rs2270916
PubMed Link: 30407299
Variant Present in the following documents:
  • Main text
  • medi-97-e13037.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs2270916
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Quantitative assessment of the clinical susceptibility of calcium-sensing receptor polymorphisms in cancer patients.

Cancer Management And Research
Huang, Haohai H; Li, Tao T; Liao, Dan D; Zhu, Zhu Z; Dong, Yong Y
Publication Date: 2018

Variant appearance in text: rs2270916
PubMed Link: 29695932
Variant Present in the following documents:
  • Main text
  • cmar-10-755.pdf
View BVdb publication page



Vitamin D receptor and calcium-sensing receptor polymorphisms and colorectal cancer survival in the Newfoundland population.

British Journal Of Cancer
Zhu, Yun Y; Wang, Peizhong Peter PP; Zhai, Guangju G; Bapat, Bharati B; Savas, Sevtap S; Woodrow, Jennifer R JR; Sharma, Ishor I; Li, Yuming Y; Zhou, Xin X; Yang, Ning N; Campbell, Peter T PT; Dicks, Elizabeth E; Parfrey, Patrick S PS; Mclaughlin, John R JR
Publication Date: 2017-09-05

Variant appearance in text: rs2270916
PubMed Link: 28765616
Variant Present in the following documents:
  • Main text
  • bjc2017242a.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2270916
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
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: rs2270916
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genetic polymorphisms of CASR and cancer risk: evidence from meta-analysis and HuGE review.

Oncotargets And Therapy
Jeong, Sohyun S; Kim, Jae Hyun JH; Kim, Myeong Gyu MG; Han, Nayoung N; Kim, In-Wha IW; Kim, Therasa T; Oh, Jung Mi JM
Publication Date: 2016

Variant appearance in text: rs2270916
PubMed Link: 26929638
Variant Present in the following documents:
  • Main text
  • ott-9-655.pdf
View BVdb publication page



Association of Dietary Vitamin D and Calcium With Genetic Polymorphisms in Colorectal Neoplasia.

Journal Of Cancer Prevention
Park, Yoon Y; Kim, Jeongseon J
Publication Date: 2015-06

Variant appearance in text: rs2270916
PubMed Link: 26151042
Variant Present in the following documents:
  • Main text
  • jcp-20-97.pdf
View BVdb publication page



Association between CASR polymorphisms, calcium intake, and colorectal cancer risk.

Plos One
Kim, Kyee-Zu KZ; Shin, Aesun A; Kim, Jeongseon J; Park, Ji Won JW; Park, Sung Chan SC; Choi, Hyo Seong HS; Chang, Hee Jin HJ; Kim, Dae Yong DY; Oh, Jae Hwan JH
Publication Date: 2013

Variant appearance in text: rs2270916
PubMed Link: 23555732
Variant Present in the following documents:
  • Main text
  • pone.0059628.pdf
View BVdb publication page



Common genetic variation of the calcium-sensing receptor and lethal prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Shui, Irene M IM; Mucci, Lorelei A LA; Wilson, Kathryn M KM; Kraft, Peter P; Penney, Kathryn L KL; Stampfer, Meir J MJ; Giovannucci, Edward E
Publication Date: 2013-01

Variant appearance in text: rs2270916
PubMed Link: 23125333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphic variation in the GC and CASR genes and associations with vitamin D metabolite concentration and metachronous colorectal neoplasia.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Hibler, Elizabeth A EA; Hu, Chengcheng C; Jurutka, Peter W PW; Martinez, Maria E ME; Jacobs, Elizabeth T ET
Publication Date: 2012-02

Variant appearance in text: rs2270916
PubMed Link: 22144504
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in the retinoid X receptor and calcium-sensing receptor and risk of colorectal cancer in the Colon Cancer Family Registry.

Carcinogenesis
Jacobs, Elizabeth T ET; Martínez, Maria E ME; Campbell, Peter T PT; Conti, David V DV; Duggan, David D; Figueiredo, Jane C JC; Haile, Robert W RW; LeRoy, Elizabeth C EC; Poynter, Jenny N JN; Thompson, Patricia A PA; Baron, John A JA
Publication Date: 2010-08

Variant appearance in text: rs2270916
PubMed Link: 20558521
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of the calcium-sensing receptor gene with blood pressure and urinary calcium in African-Americans.

The Journal Of Clinical Endocrinology And Metabolism
Jung, Jeesun J; Foroud, Tatiana M TM; Eckert, George J GJ; Flury-Wetherill, Leah L; Edenberg, Howard J HJ; Xuei, Xiaoling X; Zaidi, Syed-Adeel SA; Pratt, J Howard JH
Publication Date: 2009-03

Variant appearance in text: rs2270916
PubMed Link: 19066294
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in calcium-sensing receptor and risk for colon cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Dong, Linda M LM; Ulrich, Cornelia M CM; Hsu, Li L; Duggan, David J DJ; Benitez, Debbie S DS; White, Emily E; Slattery, Martha L ML; Caan, Bette J BJ; Potter, John D JD; Peters, Ulrike U
Publication Date: 2008-10

Variant appearance in text: rs2270916
PubMed Link: 18843020
Variant Present in the following documents:
  • Main text
View BVdb publication page