BOC
BOC cell adhesion associated, oncogene regulated
Summary
The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs116765948 | 3:112,930,316 | T/A | regulatory region variant | — |
| rs75754363 | 3:112,941,366 | G/A | intron variant | — |
| rs780752045 | 3:112,968,669 | C/T | — | uncertain significance |
| rs750058697 | 3:112,968,672 | C/T | — | uncertain significance |
| rs796877776 | 3:112,968,708 | G/A | — | uncertain significance |
| rs1945492051 | 3:112,969,416 | G/T | — | uncertain significance |
| rs2473191458 | 3:112,969,434 | T/C | — | uncertain significance |
| rs769550291 | 3:112,969,587 | G/A | — | uncertain significance |
| rs1217238094 | 3:112,969,599 | C/T | — | uncertain significance |
| rs934615287 | 3:112,969,611 | C/T | — | uncertain significance |
| rs532524657 | 3:112,970,089 | G/A | — | — |
| rs73235147 | 3:112,973,955 | A/G | — | — |
| rs144251369 | 3:112,987,291 | A/C | — | uncertain significance |
| rs772157582 | 3:112,989,724 | T/C | — | likely benign |
| rs2473549889 | 3:112,989,768 | C/T | — | uncertain significance |
| rs370889804 | 3:112,989,782 | C/T | — | uncertain significance |
| rs142636875 | 3:112,989,783 | G/A | — | uncertain significance |
| rs367568060 | 3:112,991,283 | A/G | — | uncertain significance |
| rs373889456 | 3:112,991,334 | A/G | — | uncertain significance |
| rs758565661 | 3:112,991,398 | G/C | — | uncertain significance |
| rs78290342 | 3:112,991,404 | C/A | — | conflicting classifications of pathogenicity |
| rs1948235359 | 3:112,991,417 | G/T | — | uncertain significance |
| rs146920642 | 3:112,991,419 | C/T | — | uncertain significance |
| rs1230447020 | 3:112,991,919 | C/A | — | uncertain significance |
| rs554409236 | 3:112,991,934 | T/C | — | uncertain significance |
| rs200846716 | 3:112,991,976 | A/G | — | uncertain significance |
| rs144269826 | 3:112,992,013 | C/T | — | likely benign |
| rs767316555 | 3:112,992,027 | G/A | — | uncertain significance |
| rs1173185745 | 3:112,992,041 | C/T | — | uncertain significance |
| rs148670622 | 3:112,992,051 | G/A | — | uncertain significance |
| rs141430227 | 3:112,992,120 | A/G | — | uncertain significance |
| rs145076589 | 3:112,992,140 | G/C | — | uncertain significance |
| rs370137874 | 3:112,992,173 | C/T | — | uncertain significance |
| rs570385666 | 3:112,993,252 | A/C | — | uncertain significance |
| rs139036160 | 3:112,993,344 | A/G | — | conflicting classifications of pathogenicity |
| rs768528474 | 3:112,993,387 | G/C | — | uncertain significance |
| rs377657166 | 3:112,993,404 | G/A | — | uncertain significance |
| rs1559875023 | 3:112,993,426 | C/T | — | uncertain significance |
| rs138233485 | 3:112,993,431 | C/T | — | uncertain significance |
| rs539669330 | 3:112,993,479 | G/A | — | uncertain significance |
| rs368177037 | 3:112,993,480 | A/G | — | uncertain significance |
| rs775227 | 3:112,995,074 | A/C | regulatory region variant | — |
| rs2107703025 | 3:112,996,991 | A/G | — | likely benign |
| rs371529850 | 3:112,997,008 | C/T | — | uncertain significance |
| rs1553745274 | 3:112,997,069 | G/A | — | uncertain significance |
| rs763721866 | 3:112,997,522 | C/T | — | uncertain significance |
| rs756021618 | 3:112,997,546 | G/A | — | uncertain significance |
| rs1948895860 | 3:112,997,552 | A/G | — | uncertain significance |
| rs1181043724 | 3:112,998,096 | C/G | — | uncertain significance |
| rs747804173 | 3:112,998,120 | C/A | — | uncertain significance |
| rs759609900 | 3:112,998,270 | G/A | — | uncertain significance |
| rs755993716 | 3:112,998,697 | G/A | — | uncertain significance |
| rs200983119 | 3:112,998,711 | G/T | — | likely benign |
| rs80304029 | 3:112,998,729 | C/A | — | uncertain significance |
| rs1576499443 | 3:112,998,739 | C/T | — | uncertain significance |
| rs200692186 | 3:112,998,778 | G/A | — | uncertain significance |
| rs1358622537 | 3:112,998,783 | G/C | — | uncertain significance |
| rs16860782 | 3:112,998,792 | A/G | — | benign |
| rs202019169 | 3:112,998,815 | A/G | — | uncertain significance |
| rs149676396 | 3:112,998,851 | T/C | — | uncertain significance |
| rs148436082 | 3:112,999,430 | C/A | — | uncertain significance |
| rs146445958 | 3:112,999,960 | G/A | — | benign |
| rs371936128 | 3:113,002,305 | G/A | — | uncertain significance |
| rs150200848 | 3:113,002,309 | C/G | — | benign |
| rs201334578 | 3:113,002,342 | G/A | — | uncertain significance |
| rs138348732 | 3:113,002,345 | C/G | — | uncertain significance |
| rs769604349 | 3:113,002,390 | A/G | — | uncertain significance |
| rs141324680 | 3:113,002,415 | C/T | — | benign |
| rs550532112 | 3:113,002,422 | G/C | — | uncertain significance |
| rs35536878 | 3:113,002,475 | G/C | — | benign |
| rs3814404 | 3:113,003,262 | C/T | — | benign |
| rs759135103 | 3:113,003,390 | G/A | — | likely benign |
| rs1435355183 | 3:113,003,403 | G/A | — | uncertain significance |
| rs16860787 | 3:113,003,924 | G/A | downstream gene variant | — |
| rs754581637 | 3:113,004,220 | G/C | — | uncertain significance |
| rs774586790 | 3:113,004,245 | G/A | — | uncertain significance |
| rs777649609 | 3:113,004,271 | G/T | — | uncertain significance |
| rs2473766906 | 3:113,004,298 | C/T | — | uncertain significance |
| rs199688330 | 3:113,004,304 | G/A | — | uncertain significance |
| rs772484289 | 3:113,004,316 | C/T | — | uncertain significance |
| rs541646866 | 3:113,004,338 | T/C | — | uncertain significance |
| rs184384636 | 3:113,004,367 | G/A | — | uncertain significance |
| rs34284771 | 3:113,004,861 | A/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.