MVB12A
multivesicular body subunit 12A
Summary
Enables lipid binding activity and ubiquitin binding activity. Involved in regulation of epidermal growth factor receptor signaling pathway. Located in several cellular components, including centrosome; cytosol; and vesicle. Part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10406088 | 19:17,522,309 | T/C | downstream gene variant | — |
| rs148186056 | 19:17,525,621 | T/C | coding sequence variant | — |
| rs11668883 | 19:17,527,370 | G/T | — | — |
| rs1297882491 | 19:17,530,985 | G/A | — | uncertain significance |
| rs768209524 | 19:17,531,030 | G/A | — | uncertain significance |
| rs747780762 | 19:17,531,032 | G/C | — | uncertain significance |
| rs2513277219 | 19:17,531,128 | T/G | — | uncertain significance |
| rs371492135 | 19:17,531,153 | G/A | — | uncertain significance |
| rs147670744 | 19:17,531,171 | C/T | — | uncertain significance |
| rs1371903182 | 19:17,531,216 | T/G | — | uncertain significance |
| rs2074831862 | 19:17,531,379 | G/C | — | uncertain significance |
| rs2513277752 | 19:17,531,434 | A/G | — | uncertain significance |
| rs150457252 | 19:17,533,204 | C/T | — | likely benign |
| rs375457160 | 19:17,533,221 | C/T | — | uncertain significance |
| rs1469273298 | 19:17,533,231 | G/A | — | uncertain significance |
| rs1165167278 | 19:17,534,312 | T/C | — | uncertain significance |
| rs2513281486 | 19:17,534,360 | T/G | — | uncertain significance |
| rs747878669 | 19:17,534,372 | G/A | — | uncertain significance |
| rs765354492 | 19:17,534,391 | G/T | — | uncertain significance |
| rs763199162 | 19:17,534,396 | G/T | — | uncertain significance |
| rs2074851961 | 19:17,534,423 | C/T | — | uncertain significance |
| rs757554315 | 19:17,534,509 | G/A | — | likely benign |
| rs2513281789 | 19:17,534,566 | A/T | — | uncertain significance |
| rs149774857 | 19:17,534,848 | G/A | — | uncertain significance |
| rs1661459787 | 19:17,535,478 | G/A | — | uncertain significance |
| rs141364761 | 19:17,535,755 | G/A | — | uncertain significance |
| rs763915847 | 19:17,535,788 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.