HRC
histidine rich calcium binding protein
Summary
This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150611446 | 19:49,654,561 | C/G | — | likely benign |
| rs774035843 | 19:49,655,301 | G/C | — | uncertain significance |
| rs1470536364 | 19:49,655,590 | C/G | — | uncertain significance |
| rs373869833 | 19:49,656,546 | G/C | — | uncertain significance |
| rs1006831164 | 19:49,656,573 | T/C | — | uncertain significance |
| rs768861872 | 19:49,656,676 | C/T | — | uncertain significance |
| rs61732829 | 19:49,656,688 | C/T | — | benign |
| rs144089143 | 19:49,656,807 | C/T | — | uncertain significance |
| rs927113904 | 19:49,656,928 | C/T | — | uncertain significance |
| rs151137203 | 19:49,656,955 | G/C | — | uncertain significance |
| rs2041384754 | 19:49,656,963 | T/C | — | uncertain significance |
| rs2041385313 | 19:49,657,014 | G/T | — | uncertain significance |
| rs143995804 | 19:49,657,018 | C/T | — | likely benign |
| rs140904909 | 19:49,657,075 | T/C | — | uncertain significance |
| rs570096839 | 19:49,657,197 | T/A | — | uncertain significance |
| rs1172096927 | 19:49,657,285 | C/T | — | uncertain significance |
| rs751162771 | 19:49,657,328 | G/C | — | uncertain significance |
| rs777509482 | 19:49,657,344 | G/A | — | uncertain significance |
| rs759163594 | 19:49,657,413 | C/T | — | likely benign |
| rs774959396 | 19:49,657,489 | G/A | — | uncertain significance |
| rs2514010050 | 19:49,657,536 | C/T | — | uncertain significance |
| rs2041392762 | 19:49,657,552 | C/T | — | uncertain significance |
| rs146437807 | 19:49,657,602 | C/T | — | likely benign |
| rs151175963 | 19:49,657,626 | T/C | — | uncertain significance |
| rs2514010778 | 19:49,657,725 | T/C | — | uncertain significance |
| rs766450974 | 19:49,657,778 | C/A | — | uncertain significance |
| rs1186382922 | 19:49,657,789 | G/A | — | uncertain significance |
| rs756485376 | 19:49,657,799 | A/G | — | likely benign |
| rs745452407 | 19:49,657,811 | T/G | — | likely benign |
| rs149671484 | 19:49,657,845 | C/T | — | likely benign |
| rs192949298 | 19:49,657,930 | C/T | — | uncertain significance |
| rs111701766 | 19:49,657,939 | C/G | — | uncertain significance |
| rs534651262 | 19:49,657,947 | C/T | — | uncertain significance |
| rs751086318 | 19:49,658,008 | C/T | — | uncertain significance |
| rs755812840 | 19:49,658,023 | G/A | — | uncertain significance |
| rs200701712 | 19:49,658,053 | G/A | — | uncertain significance |
| rs141840823 | 19:49,658,121 | G/A | — | uncertain significance |
| rs755278652 | 19:49,658,144 | A/G | — | likely benign |
| rs1017233906 | 19:49,658,200 | A/G | — | uncertain significance |
| rs74666147 | 19:49,658,204 | C/T | — | likely benign |
| rs3745297 | 19:49,658,209 | C/A | — | benign |
| rs148966785 | 19:49,658,233 | G/A | missense variant | — |
| rs550534373 | 19:49,658,299 | C/T | — | likely benign |
| rs1311960694 | 19:49,658,331 | G/T | — | uncertain significance |
| rs138059420 | 19:49,658,344 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.