UBASH3B
ubiquitin associated and SH3 domain containing B
Summary
This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs61911503 | 11:122,524,741 | G/A | regulatory region variant | — |
| rs3937027 | 11:122,525,773 | C/A | upstream gene variant | — |
| rs7116968 | 11:122,526,069 | C/T | regulatory region variant | — |
| rs7128198 | 11:122,526,601 | C/T | regulatory region variant | — |
| rs2496776949 | 11:122,526,815 | A/G | — | uncertain significance |
| rs150696870 | 11:122,526,821 | G/C | — | likely benign |
| rs1452522216 | 11:122,526,831 | G/C | — | uncertain significance |
| rs7129071 | 11:122,527,120 | G/A | regulatory region variant | — |
| rs11601869 | 11:122,528,023 | G/C | — | — |
| rs11218740 | 11:122,528,193 | T/C | intron variant | — |
| rs7115089 | 11:122,530,591 | C/G | intron variant | — |
| rs11605422 | 11:122,534,190 | C/T | intron variant | — |
| rs7101940 | 11:122,534,810 | A/G | regulatory region variant | — |
| rs61679561 | 11:122,535,146 | A/G | regulatory region variant | — |
| rs10892873 | 11:122,535,333 | G/C | intron variant | — |
| rs11218744 | 11:122,543,314 | G/A | intron variant | — |
| rs11218751 | 11:122,552,486 | A/G | regulatory region variant | — |
| rs949300 | 11:122,553,139 | T/A | intron variant | — |
| rs61910261 | 11:122,600,246 | T/G | upstream gene variant | — |
| rs10892890 | 11:122,603,683 | G/A | regulatory region variant | — |
| rs191973044 | 11:122,635,341 | G/T | — | — |
| rs34347341 | 11:122,646,936 | C/G | — | benign |
| rs754704633 | 11:122,646,948 | G/A | — | likely benign |
| rs773317341 | 11:122,646,959 | G/A | — | uncertain significance |
| rs373182486 | 11:122,647,787 | G/A | — | uncertain significance |
| rs35380329 | 11:122,647,831 | C/T | — | benign |
| rs377399684 | 11:122,647,832 | G/A | — | uncertain significance |
| rs200801128 | 11:122,650,195 | T/C | — | benign |
| rs1404380933 | 11:122,650,358 | A/C | — | uncertain significance |
| rs2496932637 | 11:122,650,383 | C/T | — | uncertain significance |
| rs920980289 | 11:122,653,886 | G/C | — | uncertain significance |
| rs141920402 | 11:122,659,833 | C/T | — | uncertain significance |
| rs138863082 | 11:122,659,868 | G/A | — | uncertain significance |
| rs749627169 | 11:122,659,888 | T/G | — | likely benign |
| rs200354676 | 11:122,659,889 | C/T | — | uncertain significance |
| rs1044981494 | 11:122,659,946 | G/A | — | uncertain significance |
| rs558670793 | 11:122,665,430 | C/T | — | uncertain significance |
| rs764567903 | 11:122,665,436 | C/T | — | uncertain significance |
| rs2496957936 | 11:122,665,469 | T/C | — | uncertain significance |
| rs201871388 | 11:122,665,528 | T/A | — | uncertain significance |
| rs74578417 | 11:122,666,888 | G/A | — | benign |
| rs371995593 | 11:122,666,899 | G/A | — | likely benign |
| rs772534385 | 11:122,667,619 | G/T | — | uncertain significance |
| rs534571971 | 11:122,667,622 | G/A | — | uncertain significance |
| rs776774793 | 11:122,667,625 | A/T | — | uncertain significance |
| rs111571941 | 11:122,667,665 | G/A | — | benign |
| rs770006869 | 11:122,669,661 | T/G | — | uncertain significance |
| rs756470623 | 11:122,671,926 | G/A | — | uncertain significance |
| rs1395304209 | 11:122,671,965 | C/T | — | uncertain significance |
| rs2496970858 | 11:122,671,973 | A/C | — | uncertain significance |
| rs2496971001 | 11:122,672,019 | T/C | — | uncertain significance |
| rs1778201020 | 11:122,677,213 | G/A | — | uncertain significance |
| rs57213254 | 11:122,678,513 | C/T | intron variant | — |
| rs910520942 | 11:122,678,861 | G/T | — | uncertain significance |
| rs201537744 | 11:122,680,613 | A/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.