Varaico: Literature-Extracted Genetic Variants

Gene:CASR
Variant:p.R898Q
Back to variants list

CASR

NM_000388.4:p.R898Q

Associated Papers

A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.

Chang JB et al.

American Journal of Human Genetics, 2025

40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S7_UKB_variants

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.

Leach K et al.

Pharmacological Reviews, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.

Rossi GC et al.

Child Neurology Open, 2019

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

Hannan FM et al.

Nature Reviews. Endocrinology, 2018

Anticonvulsant treatment associated with intractable hypocalcaemia in a female child with hypoparathyroidism.

Formosa N et al.

Hormone Research in Paediatrics, 2015

14-3-3 Proteins Buffer Intracellular Calcium Sensing Receptors to Constrain Signaling.

Grant MP et al.

Plos One, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Clonal evolution in breast cancer revealed by single nucleus genome sequencing.

Wang Y et al.

Nature, 2014

25079324 (PubMed )
Supplement: NIHMS607979-supplement-1.pdf

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.

Hannan FM et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

Roles of the calcium sensing receptor in the central nervous system.

Ruat M et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2013

The role of the calcium-sensing receptor in human disease.

Ward BK et al.

Clinical Biochemistry, 2012

Calcium sensing receptor mutations implicated in pancreatitis and idiopathic epilepsy syndrome disrupt an arginine-rich retention motif.

Stepanchick A et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2010

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

Kapoor A et al.

Annals of Neurology, 2008

[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]

Michigami T

Clinical Calcium, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."