JPH1
junctophilin 1
Summary
Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3780012 | 8:75,147,209 | G/C | 3 prime UTR variant | — |
| rs200862070 | 8:75,149,472 | G/A | — | uncertain significance |
| rs75912309 | 8:75,156,775 | C/G | — | uncertain significance |
| rs139101026 | 8:75,156,803 | G/C | — | uncertain significance |
| rs74766192 | 8:75,156,839 | C/T | — | benign |
| rs2536591339 | 8:75,156,937 | A/G | — | uncertain significance |
| rs181966040 | 8:75,156,959 | G/A | — | likely benign |
| rs201342439 | 8:75,157,023 | T/C | — | uncertain significance |
| rs189087530 | 8:75,157,039 | C/T | — | uncertain significance |
| rs75299101 | 8:75,157,093 | C/T | — | benign |
| rs140054578 | 8:75,157,094 | C/T | — | benign |
| rs755306620 | 8:75,157,119 | T/C | — | uncertain significance |
| rs1289959364 | 8:75,157,126 | T/C | — | uncertain significance |
| rs2536592193 | 8:75,157,133 | C/A | — | uncertain significance |
| rs16938829 | 8:75,157,149 | G/A | — | benign |
| rs1174272760 | 8:75,157,188 | A/G | — | uncertain significance |
| rs76335013 | 8:75,157,347 | T/C | — | benign |
| rs375950707 | 8:75,157,374 | A/G | — | uncertain significance |
| rs371404335 | 8:75,171,671 | C/T | — | uncertain significance |
| rs150505162 | 8:75,171,682 | C/T | — | uncertain significance |
| rs183112528 | 8:75,171,713 | C/T | — | uncertain significance |
| rs375401990 | 8:75,171,721 | G/A | — | uncertain significance |
| rs529795989 | 8:75,175,237 | T/G | — | — |
| rs536008226 | 8:75,182,797 | T/C | — | — |
| rs66824243 | 8:75,191,221 | C/T | — | — |
| rs149265787 | 8:75,214,398 | A/G | intron variant | — |
| rs2536690881 | 8:75,227,235 | T/C | — | uncertain significance |
| rs2536691019 | 8:75,227,292 | C/T | — | uncertain significance |
| rs2536691274 | 8:75,227,384 | T/A | — | uncertain significance |
| rs1391584969 | 8:75,227,468 | G/A | — | uncertain significance |
| rs142292285 | 8:75,227,537 | G/C | — | uncertain significance |
| rs563245256 | 8:75,227,588 | G/T | — | uncertain significance |
| rs201314759 | 8:75,227,597 | C/G | — | benign |
| rs749746871 | 8:75,227,610 | C/T | — | uncertain significance |
| rs201425701 | 8:75,227,635 | G/A | — | likely benign |
| rs1808129380 | 8:75,227,744 | G/A | — | uncertain significance |
| rs1451157085 | 8:75,227,762 | G/A | — | uncertain significance |
| rs140432891 | 8:75,233,146 | C/G | — | uncertain significance |
| rs1808301220 | 8:75,233,169 | G/T | — | likely pathogenic |
| rs79761162 | 8:75,233,214 | G/A | — | benign |
| rs140365097 | 8:75,233,301 | C/T | — | likely benign |
| rs137999588 | 8:75,233,401 | G/C | — | uncertain significance |
| rs1454174360 | 8:75,233,504 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.