KEGG VARIANT: 846v1

VARIANT: 846v1

Entry

846v1                      Variant

Name

CASR mutation

Type

Loss of function

Gene

CASR calcium sensing receptor [KO:K04612]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation R886P
ClinVar: 379932
dbSNP: rs1057520791

Variation

mutation F881L
ClinVar: 8340
dbSNP: rs104893704

Variation

mutation E297K
ClinVar: 8313
dbSNP: rs121909259

Variation

mutation R185Q
ClinVar: 8314
dbSNP: rs104893689

Variation

mutation R277L
ClinVar: 8317
dbSNP: rs28936684

Variation

mutation C582Y
ClinVar: 8318
dbSNP: rs104893690

Variation

mutation S749Qfs
ClinVar: 8319
dbSNP: rs869320729

Variation

mutation G670E
ClinVar: 8329
dbSNP: rs104893700

Variation

mutation R648Ter
ClinVar: 8341
dbSNP: rs104893705

Variation

mutation R185Ter
ClinVar: 8345
dbSNP: rs104893707

Variation

mutation G94Ter
ClinVar: 8351
dbSNP: rs104893709

Network

nt06318 CaSR-PTH signaling

Disease

H00246

Primary hyperparathyroidism

H02030

Neonatal hyperparathyroidism

Reference

PMID:20374733

Authors

Hendy GN, Guarnieri V, Canaff L

Title

Calcium-sensing receptor and associated diseases.

Journal

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

Reference

PMID:10843194

Authors

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

Title

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

Journal

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

Reference

PMID:7916660

Authors

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

Title

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

Journal

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

Reference

PMID:8675635

Authors

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

Title

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

Journal

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

Reference

PMID:9253359

Authors

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

Title

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

Journal

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

Reference

PMID:15292296

Authors

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

Title

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

Journal

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

Reference

PMID:14985373

Authors

Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J

Title

Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.

Journal

J Med Genet 41:155-60 (2004)
DOI:10.1136/jmg.2003.016725

Reference

PMID:27803801

Authors

Colella M, Gerbino A, Hofer AM, Curci S

Title

Recent advances in understanding the extracellular calcium-sensing receptor.

Journal

F1000Res 5:F1000 Faculty Rev-2535 (2016)
DOI:10.12688/f1000research.8963.1

LinkDB

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