DNAJC13
DnaJ heat shock protein family (Hsp40) member C13
Summary
This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]
Known Variants244 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs148911667 | 3:132,153,116 | G/C | — | benign |
| rs9864899 | 3:132,153,133 | C/G | — | benign |
| rs753166828 | 3:132,153,414 | A/G | — | uncertain significance |
| rs72990500 | 3:132,153,612 | A/G | — | benign |
| rs17404153 | 3:132,163,200 | G/C | — | — |
| rs1979847 | 3:132,165,055 | T/A | — | benign |
| rs1979848 | 3:132,165,178 | A/T | — | benign |
| rs1933248311 | 3:132,165,348 | A/G | — | uncertain significance |
| rs1933248402 | 3:132,165,349 | T/A | — | uncertain significance |
| rs780267106 | 3:132,165,351 | C/T | — | uncertain significance |
| rs753879043 | 3:132,165,358 | T/C | — | likely benign |
| rs11920676 | 3:132,166,005 | A/G | — | benign |
| rs755037188 | 3:132,166,172 | A/G | — | uncertain significance |
| rs1933280514 | 3:132,166,180 | A/G | — | uncertain significance |
| rs140317793 | 3:132,166,217 | C/T | — | uncertain significance |
| rs267599610 | 3:132,166,237 | C/T | — | uncertain significance |
| rs11917172 | 3:132,166,266 | T/G | — | benign |
| rs766731400 | 3:132,166,279 | A/G | — | uncertain significance |
| rs116489157 | 3:132,166,302 | T/G | — | likely benign |
| rs201731452 | 3:132,166,309 | G/A | — | uncertain significance |
| rs78322604 | 3:132,166,481 | C/T | — | benign |
| rs765305595 | 3:132,166,772 | A/G | — | uncertain significance |
| rs77604326 | 3:132,166,894 | G/A | — | benign |
| rs12639443 | 3:132,167,015 | C/T | — | benign |
| rs771261509 | 3:132,169,548 | G/T | — | uncertain significance |
| rs149480465 | 3:132,169,576 | A/T | — | uncertain significance |
| rs936510202 | 3:132,169,614 | A/G | — | uncertain significance |
| rs375141561 | 3:132,169,621 | T/C | — | uncertain significance |
| rs1933393460 | 3:132,169,626 | G/A | — | uncertain significance |
| rs1192055347 | 3:132,169,690 | T/C | — | uncertain significance |
| rs80328158 | 3:132,169,705 | T/A | — | benign |
| rs72992342 | 3:132,172,108 | A/T | — | benign |
| rs569280440 | 3:132,172,258 | T/C | — | likely benign |
| rs965542250 | 3:132,172,319 | G/T | — | uncertain significance |
| rs976428756 | 3:132,172,322 | G/A | — | uncertain significance |
| rs1247604394 | 3:132,172,334 | T/C | — | uncertain significance |
| rs7613098 | 3:132,172,395 | C/T | — | benign |
| rs1484958537 | 3:132,172,482 | T/G | — | uncertain significance |
| rs774006453 | 3:132,172,486 | T/C | — | uncertain significance |
| rs768213999 | 3:132,172,527 | C/T | — | uncertain significance |
| rs1330759894 | 3:132,172,926 | G/A | — | uncertain significance |
| rs372419664 | 3:132,172,942 | A/G | — | likely benign |
| rs2529553702 | 3:132,172,983 | A/G | — | uncertain significance |
| rs146992118 | 3:132,173,281 | G/A | — | benign |
| rs12695578 | 3:132,174,759 | G/A | — | benign |
| rs752500633 | 3:132,175,168 | A/T | — | uncertain significance |
| rs746620483 | 3:132,175,182 | C/G | — | uncertain significance |
| rs1485464913 | 3:132,175,188 | A/G | — | uncertain significance |
| rs745809733 | 3:132,175,205 | A/G | — | uncertain significance |
| rs369628764 | 3:132,175,226 | G/A | — | likely benign |
| rs375803422 | 3:132,175,418 | A/T | — | likely benign |
| rs1023339427 | 3:132,175,553 | C/G | — | uncertain significance |
| rs2529564587 | 3:132,175,591 | A/G | — | uncertain significance |
| rs147898644 | 3:132,175,595 | C/T | — | uncertain significance |
| rs2529564629 | 3:132,175,597 | G/A | — | uncertain significance |
| rs6778924 | 3:132,175,778 | C/T | — | benign |
| rs6778925 | 3:132,175,779 | C/A | — | benign |
| rs146802049 | 3:132,176,124 | G/A | — | uncertain significance |
| rs73860736 | 3:132,176,257 | C/G | — | benign |
| rs75854838 | 3:132,176,310 | G/C | — | benign |
| rs72992345 | 3:132,176,391 | C/T | — | benign |
| rs58709265 | 3:132,179,235 | T/C | — | benign |
| rs56384308 | 3:132,179,395 | T/C | — | benign |
| rs75323519 | 3:132,179,651 | C/T | — | benign |
| rs73215991 | 3:132,181,494 | T/G | — | benign |
| rs73860739 | 3:132,181,652 | T/C | — | benign |
| rs77682405 | 3:132,181,820 | G/T | intron variant | — |
| rs368250319 | 3:132,182,600 | C/A | — | uncertain significance |
| rs9826694 | 3:132,182,918 | G/A | — | benign |
| rs74341202 | 3:132,183,991 | G/A | intron variant | — |
| rs1370206100 | 3:132,184,898 | T/G | — | uncertain significance |
| rs200491223 | 3:132,185,182 | G/A | — | uncertain significance |
| rs148811641 | 3:132,185,236 | A/G | — | uncertain significance |
| rs73215993 | 3:132,185,414 | T/A | — | benign |
| rs780259950 | 3:132,186,030 | T/A | — | uncertain significance |
| rs370171203 | 3:132,186,072 | C/T | — | uncertain significance |
| rs62292896 | 3:132,186,187 | G/A | — | benign |
| rs3929422 | 3:132,189,048 | T/C | — | — |
| rs9829140 | 3:132,192,129 | C/T | — | benign |
| rs113408797 | 3:132,192,632 | A/G | intron variant | — |
| rs35718931 | 3:132,193,669 | C/T | — | benign |
| rs35432708 | 3:132,193,670 | C/T | — | benign |
| rs35575948 | 3:132,193,770 | A/G | — | benign |
| rs764235605 | 3:132,193,778 | T/C | — | uncertain significance |
| rs137948208 | 3:132,193,820 | A/G | — | likely benign |
| rs1232342948 | 3:132,193,844 | C/T | — | uncertain significance |
| rs753457974 | 3:132,193,849 | G/C | — | uncertain significance |
| rs149121829 | 3:132,193,853 | A/C | — | likely benign |
| rs11920646 | 3:132,194,001 | T/A | — | benign |
| rs11916613 | 3:132,194,082 | G/T | — | benign |
| rs62292949 | 3:132,196,361 | C/T | — | benign |
| rs1934522749 | 3:132,196,666 | A/G | — | uncertain significance |
| rs201629093 | 3:132,196,685 | G/A | — | uncertain significance |
| rs1576486100 | 3:132,196,704 | T/C | — | likely benign |
| rs1934524249 | 3:132,196,716 | A/C | — | uncertain significance |
| rs2369797 | 3:132,196,761 | G/A | — | benign |
| rs200204728 | 3:132,196,815 | T/A | — | likely benign |
| rs2369796 | 3:132,196,816 | A/T | — | benign |
| rs387907571 | 3:132,196,839 | A/G | missense variant | pathogenic |
| rs1416710200 | 3:132,196,854 | G/A | — | uncertain significance |
Showing 100 of 244 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.