CASR  calcium sensing receptor [KO:K04612]

hsa_var Human gene variants (Homo sapiens)

mutation R886P
ClinVar: 379932
dbSNP: rs1057520791

mutation F881L
ClinVar: 8340
dbSNP: rs104893704

mutation E297K
ClinVar: 8313
dbSNP: rs121909259

mutation R185Q
ClinVar: 8314
dbSNP: rs104893689

mutation R277L
ClinVar: 8317
dbSNP: rs28936684

mutation C582Y
ClinVar: 8318
dbSNP: rs104893690

mutation S749Qfs
ClinVar: 8319
dbSNP: rs869320729

mutation G670E
ClinVar: 8329
dbSNP: rs104893700

mutation R648Ter
ClinVar: 8341
dbSNP: rs104893705

mutation R185Ter
ClinVar: 8345
dbSNP: rs104893707

mutation G94Ter
ClinVar: 8351
dbSNP: rs104893709

PMID:20374733

Hendy GN, Guarnieri V, Canaff L

Calcium-sensing receptor and associated diseases.

Prog Mol Biol Transl Sci 89:31-95 (2009)
DOI:10.1016/S1877-1173(09)89003-0

PMID:10843194

Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J

Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.

J Clin Endocrinol Metab 85:2042-7 (2000)
DOI:10.1210/jcem.85.5.6477

PMID:7916660

Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

Cell 75:1297-303 (1993)
DOI:10.1016/0092-8674(93)90617-Y

PMID:8675635

Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al.

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

J Clin Invest 96:2683-92 (1995)
DOI:10.1172/JCI118335

PMID:9253359

Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y

Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.

J Clin Endocrinol Metab 82:2716-9 (1997)
DOI:10.1210/jcem.82.8.4135

PMID:15292296

Ward BK, Magno AL, Davis EA, Hanyaloglu AC, Stuckey BG, Burrows M, Eidne KA, Charles AK, Ratajczak T

Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism.

J Clin Endocrinol Metab 89:3721-30 (2004)
DOI:10.1210/jc.2003-031653