VSIG4
V-set and immunoglobulin domain containing 4
Summary
This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1044165 | X:65,241,726 | G/A | downstream gene variant | — |
| rs768192114 | X:65,241,978 | G/A | — | likely benign |
| rs2519486475 | X:65,242,130 | G/T | — | uncertain significance |
| rs41307375 | X:65,242,157 | G/A | — | benign |
| rs202152888 | X:65,242,170 | G/A | — | uncertain significance |
| rs181375443 | X:65,242,173 | C/T | — | uncertain significance |
| rs781575068 | X:65,242,698 | A/G | — | uncertain significance |
| rs760685843 | X:65,247,332 | G/A | — | uncertain significance |
| rs41305395 | X:65,247,333 | T/A | — | uncertain significance |
| rs141926571 | X:65,247,362 | G/C | — | uncertain significance |
| rs753126202 | X:65,247,375 | A/G | — | likely benign |
| rs201039111 | X:65,247,884 | A/G | — | likely benign |
| rs200800442 | X:65,247,913 | T/A | — | uncertain significance |
| rs1020686087 | X:65,247,919 | G/C | — | uncertain significance |
| rs778725503 | X:65,247,927 | G/A | — | uncertain significance |
| rs747929072 | X:65,247,951 | G/A | — | uncertain significance |
| rs5965085 | X:65,248,392 | G/A | intron variant | — |
| rs202001357 | X:65,252,303 | C/T | — | likely benign |
| rs749453785 | X:65,252,335 | G/T | — | uncertain significance |
| rs142891800 | X:65,252,360 | C/T | — | uncertain significance |
| rs546351019 | X:65,252,391 | C/T | — | uncertain significance |
| rs749607769 | X:65,252,401 | C/T | — | likely benign |
| rs373148029 | X:65,252,414 | A/T | — | likely benign |
| rs201461141 | X:65,252,524 | C/A | — | uncertain significance |
| rs142681306 | X:65,252,601 | A/C | — | benign |
| rs147670940 | X:65,252,953 | C/T | intron variant | — |
| rs2519508248 | X:65,253,320 | C/T | — | likely benign |
| rs375659869 | X:65,253,364 | C/G | — | uncertain significance |
| rs34581041 | X:65,253,406 | G/A | — | benign |
| rs778039131 | X:65,253,426 | C/T | — | likely benign |
| rs2519508799 | X:65,253,438 | G/A | — | uncertain significance |
| rs41306131 | X:65,253,454 | C/A | — | benign |
| rs150979129 | X:65,253,614 | A/T | — | uncertain significance |
| rs749206075 | X:65,253,634 | G/A | — | likely benign |
| rs2519509494 | X:65,253,637 | C/T | — | uncertain significance |
| rs201236670 | X:65,253,670 | G/A | — | conflicting classifications of pathogenicity |
| rs2519509632 | X:65,253,676 | A/G | — | likely benign |
| rs754269568 | X:65,253,682 | C/T | — | likely benign |
| rs1359179547 | X:65,259,798 | C/A | — | uncertain significance |
| rs199904204 | X:65,259,810 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.