B2M
beta-2-microglobulin
Summary
This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16966334 | 15:45,003,114 | C/G | regulatory region variant | — |
| rs2255235 | 15:45,003,364 | T/C | coding sequence variant | — |
| rs1023835002 | 15:45,003,745 | A/T | missense variant | uncertain significance |
| rs1057519879 | 15:45,003,746 | T/C | missense variant | pathogenic |
| rs1057519877 | 15:45,003,747 | G/C | missense variant | — |
| rs368160918 | 15:45,003,749 | C/T | — | uncertain significance |
| rs765817584 | 15:45,003,751 | C/T | — | uncertain significance |
| rs1046534954 | 15:45,003,752 | G/A | — | uncertain significance |
| rs2086865732 | 15:45,003,764 | T/A | — | pathogenic |
| rs1955559674 | 15:45,003,768 | T/C | — | likely benign |
| rs552741313 | 15:45,003,771 | G/A | — | likely benign |
| rs104894481 | 15:45,003,775 | G/C | missense variant | uncertain significance |
| rs781314311 | 15:45,003,777 | G/C | — | likely benign |
| rs1196771735 | 15:45,003,794 | G/A | — | uncertain significance |
| rs2141284625 | 15:45,003,796 | C/G | — | uncertain significance |
| rs757230673 | 15:45,003,805 | A/G | — | uncertain significance |
| rs863225287 | 15:45,003,812 | G/T | — | pathogenic |
| rs771780544 | 15:45,003,823 | C/T | — | likely benign |
| rs185185288 | 15:45,003,830 | C/T | — | likely benign |
| rs898859490 | 15:45,003,831 | C/T | — | likely benign |
| rs149900092 | 15:45,007,608 | C/T | — | likely benign |
| rs375970981 | 15:45,007,609 | G/A | — | likely benign |
| rs2141288465 | 15:45,007,611 | T/C | — | likely benign |
| rs1304731273 | 15:45,007,638 | G/T | — | uncertain significance |
| rs11553032 | 15:45,007,647 | C/T | — | uncertain significance |
| rs1204151497 | 15:45,007,659 | G/A | — | uncertain significance |
| rs1455449641 | 15:45,007,667 | A/G | — | likely benign |
| rs2506043131 | 15:45,007,668 | A/G | — | uncertain significance |
| rs568062567 | 15:45,007,679 | C/T | — | likely benign |
| rs2086930618 | 15:45,007,688 | C/G | — | uncertain significance |
| rs768464174 | 15:45,007,700 | G/T | — | likely benign |
| rs781023342 | 15:45,007,709 | A/C | — | likely benign |
| rs200164063 | 15:45,007,712 | C/T | — | likely benign |
| rs148494241 | 15:45,007,713 | G/A | — | uncertain significance |
| rs1347307081 | 15:45,007,721 | A/G | — | likely benign |
| rs775706574 | 15:45,007,765 | A/G | — | uncertain significance |
| rs2506043633 | 15:45,007,798 | T/C | — | uncertain significance |
| rs778103494 | 15:45,007,831 | C/A | — | conflicting classifications of pathogenicity |
| rs766309912 | 15:45,007,832 | T/C | — | likely benign |
| rs398122820 | 15:45,007,839 | G/A | missense variant | pathogenic |
| rs1463197729 | 15:45,007,853 | C/T | — | likely benign |
| rs754841675 | 15:45,007,854 | C/T | — | uncertain significance |
| rs1041811739 | 15:45,007,859 | G/A | — | likely benign |
| rs2506043893 | 15:45,007,865 | T/C | — | likely benign |
| rs2086933060 | 15:45,007,866 | G/A | — | uncertain significance |
| rs372078625 | 15:45,007,893 | A/C | — | uncertain significance |
| rs755877298 | 15:45,008,512 | C/T | — | likely benign |
| rs2086941192 | 15:45,008,523 | A/G | — | likely benign |
| rs147708131 | 15:45,008,535 | A/G | — | uncertain significance |
| rs2506044882 | 15:45,008,538 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.