CASR
calcium sensing receptor
Summary
The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
Known Variants1,989 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6776158 | 3:121,901,849 | G/A | — | benign |
| rs1501899 | 3:121,907,328 | A/T | — | — |
| rs139323845 | 3:121,914,479 | C/T | intron variant | — |
| rs60388563 | 3:121,920,686 | C/G | intron variant | — |
| rs12496336 | 3:121,929,450 | A/G | intron variant | — |
| rs6799828 | 3:121,935,408 | T/A | — | — |
| rs2202126 | 3:121,942,812 | A/T | — | — |
| rs6767061 | 3:121,945,164 | T/C | intron variant | — |
| rs13059382 | 3:121,961,461 | G/T | upstream gene variant | — |
| rs4678059 | 3:121,963,025 | A/T | upstream gene variant | — |
| rs9859381 | 3:121,965,199 | T/A | — | — |
| rs7635128 | 3:121,966,233 | G/T | — | — |
| rs186365367 | 3:121,972,883 | T/A | — | conflicting classifications of pathogenicity |
| rs201074178 | 3:121,972,900 | C/A | — | uncertain significance |
| rs201098532 | 3:121,972,926 | C/A | — | conflicting classifications of pathogenicity |
| rs753659949 | 3:121,973,027 | C/T | — | conflicting classifications of pathogenicity |
| rs2473204874 | 3:121,973,032 | G/A | — | uncertain significance |
| rs778565441 | 3:121,973,035 | C/T | — | uncertain significance |
| rs2107624704 | 3:121,973,037 | A/G | — | pathogenic |
| rs1467887809 | 3:121,973,038 | T/G | — | pathogenic |
| rs112042188 | 3:121,973,042 | A/C | — | conflicting classifications of pathogenicity |
| rs764556468 | 3:121,973,045 | T/G | — | uncertain significance |
| rs1559955224 | 3:121,973,046 | T/C | — | uncertain significance |
| rs1171102282 | 3:121,973,047 | A/G | — | uncertain significance |
| rs1384647209 | 3:121,973,048 | T/C | — | likely benign |
| rs2473204932 | 3:121,973,051 | C/G | — | uncertain significance |
| rs1559955229 | 3:121,973,052 | T/G | — | uncertain significance |
| rs2074528024 | 3:121,973,056 | G/A | — | uncertain significance |
| rs1381043518 | 3:121,973,057 | C/G | — | uncertain significance |
| rs2074528111 | 3:121,973,061 | G/T | — | uncertain significance |
| rs2473204987 | 3:121,973,062 | T/A | — | uncertain significance |
| rs141880581 | 3:121,973,063 | C/T | — | likely benign |
| rs1327682547 | 3:121,973,064 | C/A | — | uncertain significance |
| rs200673016 | 3:121,973,068 | T/C | — | conflicting classifications of pathogenicity |
| rs1302047092 | 3:121,973,069 | G/A | — | likely benign |
| rs1262049687 | 3:121,973,072 | A/G | — | likely benign |
| rs104893717 | 3:121,973,074 | T/C | missense variant | pathogenic |
| rs199515839 | 3:121,973,076 | A/G | — | conflicting classifications of pathogenicity |
| rs1235999733 | 3:121,973,077 | C/T | — | uncertain significance |
| rs2107624779 | 3:121,973,078 | C/T | — | likely benign |
| rs2473205110 | 3:121,973,079 | T/G | — | uncertain significance |
| rs769932724 | 3:121,973,082 | C/T | — | uncertain significance |
| rs200520980 | 3:121,973,084 | C/T | — | likely benign |
| rs1424489717 | 3:121,973,086 | C/T | — | uncertain significance |
| rs1483411909 | 3:121,973,087 | C/T | — | likely benign |
| rs749748004 | 3:121,973,089 | C/T | — | uncertain significance |
| rs558522564 | 3:121,973,090 | T/G | — | likely benign |
| rs2074528751 | 3:121,973,091 | G/C | — | uncertain significance |
| rs761576251 | 3:121,973,093 | C/T | — | conflicting classifications of pathogenicity |
| rs2074528819 | 3:121,973,095 | A/G | — | uncertain significance |
| rs201564143 | 3:121,973,096 | C/T | — | conflicting classifications of pathogenicity |
| rs1064794290 | 3:121,973,097 | G/A | — | conflicting classifications of pathogenicity |
| rs966820424 | 3:121,973,099 | G/A | — | likely benign |
| rs2473205246 | 3:121,973,100 | C/T | — | uncertain significance |
| rs2107624825 | 3:121,973,102 | A/G | — | likely benign |
| rs2107624826 | 3:121,973,103 | G/A | — | uncertain significance |
| rs979596307 | 3:121,973,106 | C/T | — | pathogenic |
| rs2473205278 | 3:121,973,107 | A/G | — | uncertain significance |
| rs201633414 | 3:121,973,109 | C/T | stop gained | pathogenic |
| rs568902441 | 3:121,973,110 | G/A | — | conflicting classifications of pathogenicity |
| rs199869938 | 3:121,973,111 | A/C | — | likely benign |
| rs77852524 | 3:121,973,114 | C/T | — | likely benign |
| rs2473205341 | 3:121,973,117 | A/G | — | likely benign |
| rs1290990935 | 3:121,973,120 | G/C | — | uncertain significance |
| rs397514729 | 3:121,973,121 | A/G | missense variant | pathogenic |
| rs868678822 | 3:121,973,123 | G/A | — | likely benign |
| rs2074529480 | 3:121,973,124 | G/C | — | uncertain significance |
| rs1553765889 | 3:121,973,125 | G/A | — | uncertain significance |
| rs1055397172 | 3:121,973,126 | G/T | — | likely benign |
| rs2473205382 | 3:121,973,127 | G/C | — | uncertain significance |
| rs1064795924 | 3:121,973,128 | A/G | — | uncertain significance |
| rs2074529687 | 3:121,973,130 | A/T | — | uncertain significance |
| rs2473205402 | 3:121,973,131 | T/A | — | uncertain significance |
| rs144604474 | 3:121,973,132 | T/C | — | likely benign |
| rs758232331 | 3:121,973,134 | T/G | — | conflicting classifications of pathogenicity |
| rs387907398 | 3:121,973,135 | C/T | — | likely benign |
| rs1559955362 | 3:121,973,137 | T/C | — | conflicting classifications of pathogenicity |
| rs2473205437 | 3:121,973,139 | G/T | — | uncertain significance |
| rs2473205445 | 3:121,973,140 | G/A | — | uncertain significance |
| rs2107624919 | 3:121,973,141 | G/C | — | likely benign |
| rs193922420 | 3:121,973,142 | G/A | missense variant | pathogenic |
| rs1559955372 | 3:121,973,143 | G/T | — | uncertain significance |
| rs781573002 | 3:121,973,144 | G/A | — | conflicting classifications of pathogenicity |
| rs2473205478 | 3:121,973,145 | C/T | — | uncertain significance |
| rs2473205484 | 3:121,973,146 | T/C | — | uncertain significance |
| rs2074530079 | 3:121,973,147 | C/T | — | likely benign |
| rs61733590 | 3:121,973,150 | T/C | — | conflicting classifications of pathogenicity |
| rs121909262 | 3:121,973,151 | C/T | missense variant | uncertain significance |
| rs1316125812 | 3:121,973,153 | T/G | — | likely benign |
| rs1458833527 | 3:121,973,154 | A/G | — | uncertain significance |
| rs2473205535 | 3:121,973,157 | C/A | — | uncertain significance |
| rs1331565057 | 3:121,973,159 | T/C | — | likely benign |
| rs1553765909 | 3:121,973,161 | T/C | — | uncertain significance |
| rs866899753 | 3:121,973,163 | G/A | — | uncertain significance |
| rs2074530467 | 3:121,973,166 | G/A | — | uncertain significance |
| rs2074530498 | 3:121,973,167 | T/A | — | uncertain significance |
| rs779995504 | 3:121,973,170 | C/A | — | uncertain significance |
| rs2107624989 | 3:121,973,175 | A/G | — | pathogenic |
| rs104893702 | 3:121,973,177 | A/C | missense variant | pathogenic |
| rs2473205661 | 3:121,973,178 | G/A | — | uncertain significance |
Showing 100 of 1,989 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.