FCGR2B
Fc gamma receptor IIb
Summary
The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs380125 | 1:161,616,335 | T/C | intron variant | — |
| rs545672653 | 1:161,616,746 | T/C | — | — |
| rs55970405 | 1:161,617,820 | G/C | — | — |
| rs2446624 | 1:161,619,361 | C/T | intron variant | — |
| rs3002598 | 1:161,620,265 | G/T | intron variant | — |
| rs77132325 | 1:161,622,304 | C/A | intron variant | — |
| rs61804164 | 1:161,623,025 | G/C | intron variant | — |
| rs75773410 | 1:161,625,798 | A/G | — | — |
| rs539657009 | 1:161,628,456 | C/T | — | — |
| rs377188082 | 1:161,630,556 | G/A | — | — |
| rs3219018 | 1:161,632,646 | G/C | — | risk factor |
| rs1984769 | 1:161,639,559 | G/A | — | — |
| rs1271298838 | 1:161,641,185 | C/G | — | likely benign |
| rs543549325 | 1:161,641,191 | C/A | — | uncertain significance |
| rs10917661 | 1:161,641,217 | C/T | stop gained | — |
| rs5017568 | 1:161,641,237 | G/A | — | conflicting classifications of pathogenicity |
| rs1050951796 | 1:161,641,262 | C/T | — | uncertain significance |
| rs144573139 | 1:161,641,267 | G/A | — | conflicting classifications of pathogenicity |
| rs1180961255 | 1:161,641,307 | A/G | — | uncertain significance |
| rs6665610 | 1:161,641,384 | G/A | synonymous variant | — |
| rs145332753 | 1:161,642,220 | C/G | intron variant | — |
| rs760615082 | 1:161,642,788 | C/A | — | uncertain significance |
| rs2524806606 | 1:161,642,827 | T/G | — | uncertain significance |
| rs762484958 | 1:161,642,844 | C/G | — | uncertain significance |
| rs757613781 | 1:161,642,899 | C/T | — | uncertain significance |
| rs368287080 | 1:161,642,912 | A/G | — | likely benign |
| rs772853792 | 1:161,642,923 | C/T | — | uncertain significance |
| rs137950262 | 1:161,642,981 | C/T | — | benign |
| rs182968886 | 1:161,642,985 | G/A | synonymous variant | — |
| rs377291694 | 1:161,643,026 | G/A | — | likely benign |
| rs1674777 | 1:161,643,327 | C/A | — | — |
| rs74816838 | 1:161,643,560 | C/T | — | — |
| rs1050501 | 1:161,643,798 | T/C | missense variant | risk factor |
| rs1674757 | 1:161,644,387 | A/G | — | — |
| rs72480273 | 1:161,644,871 | A/C | upstream gene variant | — |
| rs28651835 | 1:161,645,052 | C/T | — | benign |
| rs114004955 | 1:161,646,379 | G/A | upstream gene variant | — |
| rs193030032 | 1:161,647,148 | A/G | — | uncertain significance |
| rs1373632115 | 1:161,647,262 | C/G | — | likely benign |
| rs2102683328 | 1:161,647,300 | A/G | — | uncertain significance |
| rs778833256 | 1:161,647,321 | C/T | — | uncertain significance |
| rs1480128791 | 1:161,647,330 | A/G | — | uncertain significance |
| rs844 | 1:161,647,533 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.