SERPINA6
serpin family A member 6
Summary
This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2139712629 | 14:94,770,794 | C/G | — | uncertain significance |
| rs28929488 | 14:94,770,808 | C/T | missense variant | pathogenic |
| rs140038394 | 14:94,770,827 | G/C | — | likely benign |
| rs779518994 | 14:94,770,835 | T/G | — | uncertain significance |
| rs537163230 | 14:94,770,936 | A/G | — | uncertain significance |
| rs941601 | 14:94,771,541 | C/T | intron variant | — |
| rs2228543 | 14:94,772,429 | G/A | — | benign |
| rs752343239 | 14:94,772,430 | T/C | — | uncertain significance |
| rs200104515 | 14:94,772,443 | G/A | — | uncertain significance |
| rs1042394 | 14:94,772,504 | G/A | — | benign |
| rs202038305 | 14:94,772,561 | C/T | — | uncertain significance |
| rs772942603 | 14:94,776,110 | C/G | — | uncertain significance |
| rs201288144 | 14:94,776,128 | T/A | — | uncertain significance |
| rs1085307658 | 14:94,776,138 | C/T | — | uncertain significance |
| rs61754488 | 14:94,776,153 | C/T | — | benign |
| rs2228542 | 14:94,776,219 | C/T | — | benign |
| rs1212582054 | 14:94,776,236 | T/C | — | uncertain significance |
| rs756246894 | 14:94,776,247 | G/A | — | uncertain significance |
| rs774294970 | 14:94,776,292 | T/A | — | uncertain significance |
| rs117171767 | 14:94,777,392 | C/T | intron variant | — |
| rs766006279 | 14:94,780,379 | A/G | — | uncertain significance |
| rs769978145 | 14:94,780,447 | C/T | — | uncertain significance |
| rs760917391 | 14:94,780,534 | T/C | — | uncertain significance |
| rs3748320 | 14:94,780,608 | G/A | — | benign |
| rs113418909 | 14:94,780,642 | A/T | missense variant | pathogenic |
| rs1203867726 | 14:94,780,793 | T/C | — | uncertain significance |
| rs1359866404 | 14:94,780,822 | A/G | — | uncertain significance |
| rs750000108 | 14:94,780,856 | C/T | — | uncertain significance |
| rs761204701 | 14:94,780,873 | C/A | — | uncertain significance |
| rs2504655473 | 14:94,780,889 | T/C | — | uncertain significance |
| rs2504655489 | 14:94,780,893 | G/C | — | uncertain significance |
| rs747876567 | 14:94,780,943 | T/C | — | uncertain significance |
| rs777245398 | 14:94,780,954 | C/T | — | pathogenic |
| rs193043030 | 14:94,782,435 | T/A | intron variant | — |
| rs2281518 | 14:94,789,117 | A/G | regulatory region variant | — |
| rs1998056 | 14:94,789,495 | C/G | regulatory region variant | — |
| rs2281517 | 14:94,789,787 | A/G | regulatory region variant | — |
| rs6575415 | 14:94,791,601 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.