HSPB1
heat shock protein family B (small) member 1
Summary
This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]
Known Variants272 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2868371 | 7:75,930,759 | C/G | upstream gene variant | — |
| rs2868370 | 7:75,930,800 | G/A | upstream gene variant | — |
| rs6963310 | 7:75,931,676 | C/T | — | likely benign |
| rs117458699 | 7:75,931,729 | G/C | — | likely benign |
| rs886062446 | 7:75,931,901 | G/T | — | uncertain significance |
| rs553127513 | 7:75,931,908 | G/T | — | conflicting classifications of pathogenicity |
| rs35759978 | 7:75,931,974 | C/T | — | likely benign |
| rs35907174 | 7:75,931,984 | C/T | — | benign |
| rs199602956 | 7:75,932,011 | C/T | — | likely benign |
| rs756260929 | 7:75,932,015 | G/A | — | conflicting classifications of pathogenicity |
| rs948469224 | 7:75,932,025 | C/T | — | likely benign |
| rs372833436 | 7:75,932,026 | C/T | — | conflicting classifications of pathogenicity |
| rs200190722 | 7:75,932,030 | A/C | — | uncertain significance |
| rs1173242313 | 7:75,932,032 | G/A | — | conflicting classifications of pathogenicity |
| rs748003351 | 7:75,932,036 | G/A | — | uncertain significance |
| rs77586767 | 7:75,932,038 | G/A | — | likely benign |
| rs748730374 | 7:75,932,040 | G/A | — | uncertain significance |
| rs1049324 | 7:75,932,045 | G/A | — | conflicting classifications of pathogenicity |
| rs773864816 | 7:75,932,046 | T/C | — | uncertain significance |
| rs11547164 | 7:75,932,047 | C/G | — | likely benign |
| rs1563651698 | 7:75,932,048 | C/T | — | conflicting classifications of pathogenicity |
| rs1405359814 | 7:75,932,049 | C/G | — | conflicting classifications of pathogenicity |
| rs759998200 | 7:75,932,050 | C/T | — | likely benign |
| rs201769668 | 7:75,932,053 | C/T | — | likely benign |
| rs1232413726 | 7:75,932,056 | G/T | — | likely benign |
| rs772216758 | 7:75,932,058 | T/A | — | uncertain significance |
| rs199712600 | 7:75,932,062 | G/C | — | likely benign |
| rs145369859 | 7:75,932,065 | G/T | — | likely benign |
| rs1475184454 | 7:75,932,066 | G/A | — | uncertain significance |
| rs750588141 | 7:75,932,068 | C/T | — | likely benign |
| rs767045847 | 7:75,932,069 | C/T | — | uncertain significance |
| rs11547163 | 7:75,932,073 | G/A | — | uncertain significance |
| rs780878780 | 7:75,932,074 | C/A | — | uncertain significance |
| rs973126266 | 7:75,932,076 | G/A | — | uncertain significance |
| rs1803014417 | 7:75,932,081 | C/A | — | uncertain significance |
| rs2536148976 | 7:75,932,087 | C/A | — | uncertain significance |
| rs1803014628 | 7:75,932,089 | C/T | — | uncertain significance |
| rs2117157792 | 7:75,932,095 | G/C | — | uncertain significance |
| rs1414148792 | 7:75,932,099 | C/A | — | uncertain significance |
| rs374172570 | 7:75,932,104 | T/G | — | uncertain significance |
| rs2117157825 | 7:75,932,106 | G/A | — | uncertain significance |
| rs1221701269 | 7:75,932,107 | C/A | — | uncertain significance |
| rs367662394 | 7:75,932,109 | G/C | — | conflicting classifications of pathogenicity |
| rs778672047 | 7:75,932,113 | C/T | — | likely benign |
| rs771709777 | 7:75,932,118 | A/C | — | uncertain significance |
| rs775728229 | 7:75,932,120 | C/G | — | uncertain significance |
| rs769349092 | 7:75,932,123 | G/T | — | uncertain significance |
| rs777261210 | 7:75,932,124 | C/T | — | uncertain significance |
| rs762032846 | 7:75,932,128 | C/T | — | likely benign |
| rs1554614432 | 7:75,932,129 | G/A | — | uncertain significance |
| rs765197724 | 7:75,932,137 | C/G | — | likely benign |
| rs763098034 | 7:75,932,138 | C/T | — | uncertain significance |
| rs372197630 | 7:75,932,139 | G/C | — | likely benign |
| rs1439664934 | 7:75,932,141 | C/A | — | uncertain significance |
| rs557327165 | 7:75,932,145 | C/T | — | pathogenic |
| rs752555764 | 7:75,932,146 | G/A | — | likely benign |
| rs747295724 | 7:75,932,147 | G/T | — | uncertain significance |
| rs755890327 | 7:75,932,148 | A/T | — | uncertain significance |
| rs1277569825 | 7:75,932,149 | G/A | — | likely benign |
| rs1393404971 | 7:75,932,150 | G/A | — | uncertain significance |
| rs11547167 | 7:75,932,152 | G/A | — | likely benign |
| rs896004429 | 7:75,932,155 | G/A | — | pathogenic |
| rs1346600366 | 7:75,932,156 | T/C | — | uncertain significance |
| rs950234286 | 7:75,932,157 | C/G | — | uncertain significance |
| rs764071304 | 7:75,932,158 | G/A | — | likely benign |
| rs753747742 | 7:75,932,163 | G/A | — | uncertain significance |
| rs1436925794 | 7:75,932,165 | T/G | — | uncertain significance |
| rs757180608 | 7:75,932,167 | A/G | — | likely benign |
| rs778311776 | 7:75,932,168 | G/A | — | uncertain significance |
| rs546699221 | 7:75,932,171 | G/A | — | uncertain significance |
| rs2536149189 | 7:75,932,173 | C/A | — | likely benign |
| rs1404212306 | 7:75,932,178 | G/T | — | uncertain significance |
| rs1408159922 | 7:75,932,181 | G/A | — | uncertain significance |
| rs769118115 | 7:75,932,182 | G/A | — | conflicting classifications of pathogenicity |
| rs1448517269 | 7:75,932,184 | C/G | — | uncertain significance |
| rs375244209 | 7:75,932,187 | G/A | — | conflicting classifications of pathogenicity |
| rs748696628 | 7:75,932,188 | C/T | — | likely benign |
| rs770285235 | 7:75,932,191 | C/T | — | likely benign |
| rs1803021354 | 7:75,932,192 | G/C | — | uncertain significance |
| rs1248157935 | 7:75,932,197 | C/T | — | likely benign |
| rs1803021885 | 7:75,932,198 | C/T | — | uncertain significance |
| rs887152183 | 7:75,932,200 | C/T | — | likely benign |
| rs892258745 | 7:75,932,203 | G/C | — | likely benign |
| rs763084460 | 7:75,932,204 | C/T | — | uncertain significance |
| rs996702771 | 7:75,932,206 | C/T | — | likely benign |
| rs61751217 | 7:75,932,207 | C/T | — | likely benign |
| rs112075084 | 7:75,932,208 | C/G | — | uncertain significance |
| rs774535175 | 7:75,932,209 | C/T | — | likely benign |
| rs760506471 | 7:75,932,212 | C/T | — | likely benign |
| rs1064796602 | 7:75,932,213 | G/A | — | uncertain significance |
| rs1167322258 | 7:75,932,218 | C/T | — | likely benign |
| rs1803023708 | 7:75,932,219 | G/A | — | uncertain significance |
| rs1803023868 | 7:75,932,221 | G/C | — | uncertain significance |
| rs2536149385 | 7:75,932,225 | C/T | — | uncertain significance |
| rs763909905 | 7:75,932,227 | C/T | — | likely benign |
| rs753585086 | 7:75,932,228 | G/A | — | uncertain significance |
| rs757158514 | 7:75,932,231 | G/C | — | uncertain significance |
| rs1554614462 | 7:75,932,233 | G/C | — | likely benign |
| rs1441245508 | 7:75,932,237 | G/A | — | uncertain significance |
| rs749963653 | 7:75,932,239 | G/A | — | conflicting classifications of pathogenicity |
Showing 100 of 272 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.