HSP90B1
heat shock protein 90 beta family member 1
Summary
This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5' exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs149528402 | 12:104,324,309 | G/T | — | uncertain significance |
| rs761026206 | 12:104,325,323 | T/C | — | uncertain significance |
| rs2722188 | 12:104,325,649 | T/G | upstream gene variant | — |
| rs766878694 | 12:104,326,079 | T/G | — | uncertain significance |
| rs1263799075 | 12:104,326,102 | G/A | — | uncertain significance |
| rs372981677 | 12:104,326,120 | C/G | — | uncertain significance |
| rs11547724 | 12:104,326,121 | G/A | — | benign |
| rs2540710613 | 12:104,326,679 | A/G | — | uncertain significance |
| rs2540711265 | 12:104,327,833 | A/G | — | uncertain significance |
| rs1322917989 | 12:104,327,965 | C/T | — | uncertain significance |
| rs567564451 | 12:104,328,005 | A/G | — | uncertain significance |
| rs201596968 | 12:104,331,496 | C/T | — | uncertain significance |
| rs375719261 | 12:104,331,531 | G/A | — | uncertain significance |
| rs2540713215 | 12:104,331,561 | C/A | — | uncertain significance |
| rs200904772 | 12:104,332,199 | G/A | — | uncertain significance |
| rs1177091776 | 12:104,333,335 | A/G | — | uncertain significance |
| rs768456646 | 12:104,335,290 | G/A | — | uncertain significance |
| rs1177457 | 12:104,336,127 | C/T | intron variant | — |
| rs938232098 | 12:104,336,327 | G/A | — | uncertain significance |
| rs770060582 | 12:104,336,374 | G/T | — | uncertain significance |
| rs1020103855 | 12:104,336,443 | C/T | — | uncertain significance |
| rs757332238 | 12:104,337,053 | G/C | — | uncertain significance |
| rs747385288 | 12:104,337,086 | C/T | — | uncertain significance |
| rs2583262 | 12:104,339,014 | C/A | — | — |
| rs773080167 | 12:104,340,467 | G/A | — | uncertain significance |
| rs2136218138 | 12:104,340,596 | T/G | — | likely benign |
| rs555733986 | 12:104,340,603 | G/A | — | uncertain significance |
| rs760632547 | 12:104,340,628 | G/A | — | uncertain significance |
| rs765735543 | 12:104,340,657 | G/T | — | uncertain significance |
| rs369072974 | 12:104,340,661 | A/G | — | uncertain significance |
| rs1165695 | 12:104,341,398 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.