DNAJC10
DnaJ heat shock protein family (Hsp40) member C10
Summary
This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769542885 | 2:183,582,865 | A/C | — | uncertain significance |
| rs751274336 | 2:183,582,915 | G/T | — | uncertain significance |
| rs1168216180 | 2:183,583,016 | C/T | — | uncertain significance |
| rs2469872129 | 2:183,584,734 | A/C | — | uncertain significance |
| rs1693110475 | 2:183,584,785 | G/A | — | uncertain significance |
| rs747518120 | 2:183,586,800 | T/A | — | uncertain significance |
| rs288278 | 2:183,591,571 | G/A | intron variant | — |
| rs375772609 | 2:183,593,311 | G/A | — | uncertain significance |
| rs1191402715 | 2:183,593,699 | T/A | — | uncertain significance |
| rs376885680 | 2:183,593,704 | A/G | — | uncertain significance |
| rs372625469 | 2:183,594,636 | A/G | — | uncertain significance |
| rs753060113 | 2:183,597,234 | A/G | — | uncertain significance |
| rs1236805876 | 2:183,601,091 | A/G | — | uncertain significance |
| rs200062649 | 2:183,605,104 | A/T | — | uncertain significance |
| rs201121755 | 2:183,605,974 | G/A | — | uncertain significance |
| rs138024183 | 2:183,605,982 | C/T | — | uncertain significance |
| rs758085550 | 2:183,605,988 | C/T | — | uncertain significance |
| rs1197525857 | 2:183,608,331 | A/G | — | uncertain significance |
| rs2469935729 | 2:183,608,436 | C/A | — | uncertain significance |
| rs373423251 | 2:183,613,688 | C/T | — | — |
| rs745606928 | 2:183,616,432 | A/T | — | uncertain significance |
| rs144717687 | 2:183,616,475 | A/G | — | uncertain significance |
| rs747779598 | 2:183,616,802 | T/C | — | uncertain significance |
| rs368684952 | 2:183,616,838 | A/G | — | uncertain significance |
| rs1442887900 | 2:183,622,441 | T/G | — | uncertain significance |
| rs754566665 | 2:183,623,901 | T/C | — | likely benign |
| rs372508150 | 2:183,623,916 | C/T | — | uncertain significance |
| rs200891337 | 2:183,623,955 | A/G | — | uncertain significance |
| rs61738722 | 2:183,623,978 | G/C | — | uncertain significance |
| rs1024123807 | 2:183,623,982 | C/T | — | uncertain significance |
| rs747447827 | 2:183,624,033 | G/T | — | uncertain significance |
| rs2468350712 | 2:183,627,451 | G/A | — | uncertain significance |
| rs534748162 | 2:183,627,479 | G/A | — | uncertain significance |
| rs753530799 | 2:183,627,517 | G/A | — | uncertain significance |
| rs193097194 | 2:183,637,641 | G/A | intron variant | — |
| rs1694679688 | 2:183,640,116 | A/G | — | uncertain significance |
| rs1365769436 | 2:183,640,118 | A/G | — | uncertain significance |
| rs199932502 | 2:183,640,121 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.