FAM111B
FAM111 trypsin like peptidase B
Summary
This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144133192 | 11:58,877,138 | G/T | — | uncertain significance |
| rs768174260 | 11:58,877,139 | C/T | — | uncertain significance |
| rs1565186096 | 11:58,877,143 | G/A | — | uncertain significance |
| rs2496012270 | 11:58,877,146 | A/G | — | likely benign |
| rs200783344 | 11:58,877,152 | C/A | — | uncertain significance |
| rs1449315779 | 11:58,877,165 | C/A | — | uncertain significance |
| rs4939257 | 11:58,889,431 | A/C | — | — |
| rs1449044774 | 11:58,891,653 | A/G | — | uncertain significance |
| rs144378733 | 11:58,891,734 | A/C | — | uncertain significance |
| rs751851641 | 11:58,891,763 | A/G | — | uncertain significance |
| rs755584055 | 11:58,891,825 | G/C | — | uncertain significance |
| rs550771267 | 11:58,891,830 | G/A | — | likely benign |
| rs746511108 | 11:58,891,850 | C/G | — | uncertain significance |
| rs1859974395 | 11:58,891,866 | C/T | — | uncertain significance |
| rs139291529 | 11:58,891,896 | C/T | — | uncertain significance |
| rs778650838 | 11:58,891,926 | A/G | — | uncertain significance |
| rs374363569 | 11:58,891,988 | C/T | — | likely benign |
| rs200180340 | 11:58,892,090 | C/T | — | likely benign |
| rs1590893977 | 11:58,892,136 | T/C | — | uncertain significance |
| rs1859986458 | 11:58,892,241 | C/G | — | uncertain significance |
| rs201783823 | 11:58,892,288 | T/A | — | uncertain significance |
| rs763591821 | 11:58,892,455 | C/A | — | uncertain significance |
| rs1234012416 | 11:58,892,495 | A/G | — | likely benign |
| rs2496051876 | 11:58,892,511 | C/T | — | uncertain significance |
| rs148826855 | 11:58,892,533 | A/G | — | likely benign |
| rs779035739 | 11:58,892,561 | A/T | — | uncertain significance |
| rs2496052286 | 11:58,892,577 | A/G | — | likely benign |
| rs138673535 | 11:58,892,593 | A/G | — | benign |
| rs374133736 | 11:58,892,666 | C/T | — | uncertain significance |
| rs768536777 | 11:58,892,687 | C/T | — | uncertain significance |
| rs2496053100 | 11:58,892,705 | G/T | — | uncertain significance |
| rs2135404867 | 11:58,892,817 | T/C | — | not provided |
| rs551644836 | 11:58,892,859 | A/C | missense variant | not provided |
| rs2135404946 | 11:58,892,871 | A/C | — | likely pathogenic |
| rs537477522 | 11:58,892,924 | G/A | — | likely benign |
| rs778440651 | 11:58,892,952 | T/C | — | uncertain significance |
| rs569506642 | 11:58,893,032 | T/G | — | uncertain significance |
| rs767471589 | 11:58,893,036 | G/A | — | uncertain significance |
| rs139496218 | 11:58,893,108 | C/T | — | uncertain significance |
| rs2135405215 | 11:58,893,125 | T/C | — | uncertain significance |
| rs1268117490 | 11:58,893,129 | C/G | — | uncertain significance |
| rs1860014630 | 11:58,893,147 | C/T | — | uncertain significance |
| rs192454949 | 11:58,893,182 | G/A | — | uncertain significance |
| rs142880803 | 11:58,893,189 | A/G | — | uncertain significance |
| rs1245638741 | 11:58,893,239 | T/C | — | uncertain significance |
| rs1860018152 | 11:58,893,279 | C/G | — | uncertain significance |
| rs765228450 | 11:58,893,330 | T/C | — | uncertain significance |
| rs202177353 | 11:58,893,346 | G/A | — | likely benign |
| rs146090062 | 11:58,893,359 | G/A | — | uncertain significance |
| rs201488964 | 11:58,893,377 | C/G | — | uncertain significance |
| rs767282202 | 11:58,893,402 | T/C | — | uncertain significance |
| rs750907318 | 11:58,893,420 | C/T | — | uncertain significance |
| rs587777236 | 11:58,893,431 | T/G | missense variant | pathogenic |
| rs886039852 | 11:58,893,444 | C/A | missense variant | not provided |
| rs587777237 | 11:58,893,449 | A/G | missense variant | pathogenic |
| rs2496056933 | 11:58,893,450 | G/C | — | uncertain significance |
| rs2135405562 | 11:58,893,451 | A/T | — | not provided |
| rs587777238 | 11:58,893,453 | G/A | missense variant | pathogenic |
| rs2135405570 | 11:58,893,454 | T/A | — | not provided |
| rs2135405575 | 11:58,893,456 | T/G | — | pathogenic |
| rs1555014282 | 11:58,893,457 | C/A | — | likely pathogenic |
| rs751929686 | 11:58,893,476 | A/T | — | uncertain significance |
| rs143926442 | 11:58,893,483 | C/T | — | likely benign |
| rs1185896284 | 11:58,893,486 | T/C | — | uncertain significance |
| rs1390647521 | 11:58,893,567 | C/A | — | uncertain significance |
| rs141940888 | 11:58,893,621 | G/A | — | uncertain significance |
| rs760359825 | 11:58,893,630 | T/C | — | uncertain significance |
| rs1003686064 | 11:58,893,641 | C/A | — | uncertain significance |
| rs2496058311 | 11:58,893,690 | A/T | — | uncertain significance |
| rs867052454 | 11:58,893,702 | A/G | — | uncertain significance |
| rs753918637 | 11:58,893,710 | G/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.