Variant: rs104893691 

    present in Gene: CASR
    present in Chromosome: 3
    Position on Chromosome: 122257241
    Alleles of this Variant: G/A

rs104893691 in CASR gene and HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 PMID 10487661 1999 Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.

PMID 12574188 2003 Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

PMID 12107202 2002 Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

PMID 12241879 2002 Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

PMID 22789683 2012 CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

PMID 15551332 2005 A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.

PMID 8878438 1996 Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.

PMID 7874174 1994 Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

PMID 25766501 2015 Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.

PMID 12915654 2003 Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

PMID 12050233 2002 A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

PMID 8813042 1996 A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

PMID 8702647 1996 Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.

PMID 8733126 1996 Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.

PMID 16608894 2006 A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

PMID 23169696 2013 Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.

PMID 23966241 2013 Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.

PMID 9661634 1998 Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.

PMID 9253358 1997 Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

PMID 9920108 1999 A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.