Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.A986S
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CASR

NM_000388.4:p.A986S

Associated Papers

Exploratory analysis of CaSR gene polymorphisms and haplotypes in relation to urolithiasis in the Qiongnan population of Hainan, China: a small-sample case-control study.

Wang J et al.

Bmc Urology, 2026

Association between calcium-Sensing receptor gene polymorphisms and urinary calcium stone formation in the Han Chinese population from a High-Altitude region (Kunming) in China.

Hou J et al.

Urolithiasis, 2026

CaSR Gene Polymorphisms and PHPT Phenotypes: What Else Can We Learn? A Single-Center Experience on a Cohort of Italian Patients.

Cannito M et al.

Genes, 2025

Idiopathic Infantile Hypercalcaemia-Genetic, Biochemical and Clinical Outcomes in a Small Cohort.

Amato LA et al.

Clinical Endocrinology, 2025

A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.

Conigrave AD et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Association of Single Nucleotide Polymorphisms of Calcium-Sensing Receptors With the Occurrence and Recurrence of Nephrolithiasis in the Indian Population.

Ns M et al.

Cureus, 2025

Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils.

Priyadarshini G et al.

Journal of Applied Genetics, 2025

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Prasad H et al.

Human Molecular Genetics, 2024

Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.

Tian L et al.

Chronic Diseases and Translational Medicine, 2024

Ca2+-sensing receptor-TRP channel-mediated Ca2+ signaling: Functional diversity and pharmacological complexity.

Wu KC et al.

European Journal of Pharmacology, 2024

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism.

Viviani A et al.

Endocrine, 2023

37651007 (PubMed )
Supplement: 12020_2023_3476_MOESM1_ESM.xlsx › Table_S1

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis.

Khan E et al.

Global Medical Genetics, 2023

A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.

Yu B et al.

Pediatric Investigation, 2023

Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions.

Ali FT et al.

Urolithiasis, 2022

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.

Young WJ et al.

Nature Communications, 2022

36050321 (PubMed )
Supplement: 41467_2022_32821_MOESM4_ESM.xlsx › Data_12a

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.

Drosataki E et al.

Bmc Nephrology, 2022

Genetic causes of neonatal and infantile hypercalcaemia.

Gorvin CM

Pediatric Nephrology (berlin, Germany), 2022

The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis.

Ewers M et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2021

Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort.

Takáts A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2021

The impact of CASR A990G polymorphism in response to cinacalcet treatment in hemodialysis patients with secondary hyperparathyroidism.

Ngamkam J et al.

Scientific Reports, 2021

Polymorphisms Contributing to Calcium Status: A Systematic Review.

da Silva Lopes K et al.

Nutrients, 2021

Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies.

Actkins KV et al.

Journal of Personalized Medicine, 2021

Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study.

Shyamasunder AH et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2021

Rare diseases caused by abnormal calcium sensing and signalling.

Tőke J et al.

Endocrine, 2021

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1

Calcium-sensing receptor signaling - How human disease informs biology.

Gorvin CM

Current Opinion in Endocrine and Metabolic Research, 2021

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

Calcium-Sensing Receptor Gene Polymorphisms and Idiopathic Hypercalciuria in Children.

Siomou E et al.

Indian Journal of Pediatrics, 2021

Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis.

Atmoko W et al.

Plos One, 2021

Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.

Marx SJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Disordered Gut Microbiota in Children Who Have Chronic Pancreatitis and Different Functional Gene Mutations.

Wang W et al.

Clinical and Translational Gastroenterology, 2020

Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism?

Coppin L et al.

European Journal of Endocrinology, 2020

Calcium-Sensing Receptor Gene Polymorphisms (CASRV1 and CASRV2) and the Physical Activity Level of Men in Lower Silesia, Poland.

Zagrodna A et al.

Frontiers in Genetics, 2020

Single Nucleotide Variants Associated with Colorectal Cancer Among Iranian Patients: A Narrative Review.

Jamshidi M et al.

Pharmacogenomics and Personalized Medicine, 2020

Calcium-sensing receptor gene (CASR) polymorphisms and CASR transcript level concerning dyslipidemia in hemodialysis patients: a cross-sectional study.

Grzegorzewska AE et al.

Bmc Nephrology, 2019

The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population.

Chen WC et al.

Scientific Reports, 2019

Calcium-sensing receptor: evidence and hypothesis for its role in nephrolithiasis.

Vezzoli G et al.

Urolithiasis, 2019

Nephrolithiasis secondary to inherited defects in the thick ascending loop of henle and connecting tubules.

Faller N et al.

Urolithiasis, 2019

Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.

García-Castaño A et al.

European Journal of Endocrinology, 2019

The role of GPCRs in bone diseases and dysfunctions.

Luo J et al.

Bone Research, 2019

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM et al.

Nature Reviews. Endocrinology, 2018

Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China.

Li H et al.

Annals of Human Genetics, 2018

Personalized Management of Bone and Mineral Disorders and Precision Medicine in End-Stage Kidney Disease.

Jovanovich A et al.

Seminars in Nephrology, 2018

Associations between single nucleotide polymorphisms in the calcium sensing receptor and chronic kidney disease-mineral and bone disorder in cats.

Geddes RF et al.

Veterinary Journal (london, England : 1997), 2018

Effects of genetic variants on serum parathyroid hormone in hyperparathyroidism and end-stage renal disease patients: A systematic review and meta-analysis.

Matana A et al.

Medicine, 2018

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

Huang H et al.

Cancer Management and Research, 2018

The Calcium-Sensing Receptor Gene Polymorphism rs1801725 and Calcium-Related Phenotypes in Hemodialysis Patients.

Grzegorzewska AE et al.

Kidney & Blood Pressure Research, 2018

Tumor expression of calcium sensing receptor and colorectal cancer survival: Results from the nurses' health study and health professionals follow-up study.

Momen-Heravi F et al.

International Journal of Cancer, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."