FRMD3
FERM domain containing 3
Summary
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1163982596 | 9:85,862,879 | A/G | — | uncertain significance |
| rs201959657 | 9:85,862,955 | A/G | — | uncertain significance |
| rs375988330 | 9:85,863,090 | C/T | — | uncertain significance |
| rs765203567 | 9:85,863,153 | C/T | — | uncertain significance |
| rs182521075 | 9:85,863,197 | C/T | — | uncertain significance |
| rs1464440662 | 9:85,863,264 | G/A | — | uncertain significance |
| rs2537664882 | 9:85,863,318 | C/T | — | uncertain significance |
| rs142057787 | 9:85,903,428 | G/A | intron variant | — |
| rs367902496 | 9:85,905,539 | C/T | — | uncertain significance |
| rs748410494 | 9:85,905,635 | T/C | — | uncertain significance |
| rs942280 | 9:85,905,861 | C/T | intron variant | — |
| rs763249143 | 9:85,913,696 | G/A | — | uncertain significance |
| rs2537927710 | 9:85,913,706 | C/G | — | uncertain significance |
| rs745538615 | 9:85,924,466 | T/C | — | uncertain significance |
| rs2131045577 | 9:85,924,524 | C/T | — | uncertain significance |
| rs367835279 | 9:85,925,413 | C/T | — | uncertain significance |
| rs767915126 | 9:85,926,820 | C/G | — | uncertain significance |
| rs2538068323 | 9:85,950,455 | A/C | — | uncertain significance |
| rs111374752 | 9:85,950,510 | T/A | — | uncertain significance |
| rs373819528 | 9:85,950,511 | G/A | — | likely benign |
| rs750299771 | 9:85,950,524 | T/C | — | uncertain significance |
| rs1363420267 | 9:85,950,540 | A/C | — | uncertain significance |
| rs772773617 | 9:85,958,159 | G/A | — | uncertain significance |
| rs778758442 | 9:85,964,627 | T/C | — | uncertain significance |
| rs115795127 | 9:85,993,901 | T/C | intron variant | — |
| rs2538248062 | 9:86,004,520 | C/G | — | uncertain significance |
| rs2538248293 | 9:86,004,558 | G/T | — | uncertain significance |
| rs8181122 | 9:86,052,346 | G/T | — | — |
| rs377055698 | 9:86,153,010 | C/G | — | uncertain significance |
| rs756984550 | 9:86,153,038 | G/A | — | uncertain significance |
| rs750389716 | 9:86,153,136 | G/A | — | uncertain significance |
| rs10868025 | 9:86,164,176 | A/T | — | — |
| rs72746831 | 9:86,169,361 | G/A | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.