F13A1
coagulation factor XIII A chain
Summary
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
Known Variants216 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1760234417 | 6:6,144,397 | C/G | — | uncertain significance |
| rs1803604 | 6:6,144,599 | A/G | — | uncertain significance |
| rs886061655 | 6:6,144,685 | A/C | — | uncertain significance |
| rs933569768 | 6:6,144,717 | C/T | — | uncertain significance |
| rs3024487 | 6:6,144,807 | G/C | — | uncertain significance |
| rs548323382 | 6:6,144,822 | C/A | — | uncertain significance |
| rs3024466 | 6:6,144,857 | C/A | — | benign |
| rs138629563 | 6:6,144,886 | C/A | — | uncertain significance |
| rs774737661 | 6:6,144,907 | A/G | — | uncertain significance |
| rs921932200 | 6:6,144,918 | C/T | — | uncertain significance |
| rs746364189 | 6:6,144,925 | C/T | — | uncertain significance |
| rs56039031 | 6:6,145,056 | C/T | — | uncertain significance |
| rs12862 | 6:6,145,109 | C/T | — | benign |
| rs886061656 | 6:6,145,224 | C/T | — | uncertain significance |
| rs886061657 | 6:6,145,225 | C/T | — | uncertain significance |
| rs191569585 | 6:6,145,233 | G/A | — | uncertain significance |
| rs148907610 | 6:6,145,246 | A/G | — | uncertain significance |
| rs75981686 | 6:6,145,265 | C/T | — | uncertain significance |
| rs3024486 | 6:6,145,409 | C/T | — | likely benign |
| rs138139907 | 6:6,145,424 | G/T | — | uncertain significance |
| rs886061658 | 6:6,145,435 | C/A | — | uncertain significance |
| rs568780978 | 6:6,145,582 | G/A | — | uncertain significance |
| rs3024464 | 6:6,145,631 | C/T | — | benign |
| rs192234804 | 6:6,145,644 | A/G | — | uncertain significance |
| rs1050783 | 6:6,145,692 | C/T | 3 prime UTR variant | benign |
| rs1050782 | 6:6,145,726 | A/G | — | benign |
| rs3024463 | 6:6,145,740 | C/A | — | likely benign |
| rs541596469 | 6:6,145,750 | C/T | — | uncertain significance |
| rs3024462 | 6:6,145,763 | T/C | — | benign |
| rs182425546 | 6:6,145,785 | G/A | — | uncertain significance |
| rs886061659 | 6:6,145,810 | C/T | — | uncertain significance |
| rs771213534 | 6:6,145,856 | A/T | — | uncertain significance |
| rs5989 | 6:6,145,882 | G/A | — | conflicting classifications of pathogenicity |
| rs2480480139 | 6:6,145,901 | T/C | — | uncertain significance |
| rs267606787 | 6:6,145,941 | G/A | missense variant | pathogenic |
| rs1315490476 | 6:6,145,956 | A/C | — | uncertain significance |
| rs762504395 | 6:6,145,983 | C/T | — | uncertain significance |
| rs750971578 | 6:6,145,984 | G/A | — | uncertain significance |
| rs1760266365 | 6:6,145,985 | G/A | — | uncertain significance |
| rs3024460 | 6:6,146,321 | T/C | — | benign |
| rs3024459 | 6:6,151,819 | C/T | — | benign |
| rs3024458 | 6:6,151,952 | C/T | — | benign |
| rs5980 | 6:6,152,007 | C/T | — | benign |
| rs121913064 | 6:6,152,046 | C/T | missense variant | pathogenic |
| rs201302247 | 6:6,152,055 | T/A | — | uncertain significance |
| rs371964182 | 6:6,152,062 | T/C | — | uncertain significance |
| rs1760383595 | 6:6,152,093 | T/C | — | uncertain significance |
| rs267606789 | 6:6,152,107 | G/A | stop gained | pathogenic |
| rs769656856 | 6:6,152,110 | G/C | — | uncertain significance |
| rs2480490310 | 6:6,152,131 | T/A | — | uncertain significance |
| rs5988 | 6:6,152,137 | C/G | missense variant | benign |
| rs5987 | 6:6,152,140 | C/T | missense variant | benign |
| rs1483793682 | 6:6,152,182 | C/T | — | uncertain significance |
| rs2274394 | 6:6,152,211 | C/G | — | benign |
| rs3024457 | 6:6,152,408 | C/A | — | benign |
| rs3024456 | 6:6,152,470 | A/T | — | benign |
| rs435048 | 6:6,167,621 | G/A | — | benign |
| rs200830173 | 6:6,167,720 | C/T | — | uncertain significance |
| rs2480517434 | 6:6,167,734 | T/C | — | uncertain significance |
| rs141416839 | 6:6,167,735 | T/C | — | uncertain significance |
| rs958236716 | 6:6,167,736 | G/A | — | likely benign |
| rs145180358 | 6:6,167,738 | C/A | — | uncertain significance |
| rs138943514 | 6:6,167,739 | C/G | — | conflicting classifications of pathogenicity |
| rs143769071 | 6:6,167,766 | A/G | — | likely benign |
| rs777280256 | 6:6,167,767 | G/C | — | uncertain significance |
| rs148207995 | 6:6,167,791 | G/A | — | uncertain significance |
| rs757172838 | 6:6,167,795 | G/A | — | likely pathogenic |
| rs2480517632 | 6:6,167,803 | A/G | — | uncertain significance |
| rs1277387741 | 6:6,167,817 | C/G | — | uncertain significance |
| rs529985469 | 6:6,167,819 | C/T | — | uncertain significance |
| rs138754417 | 6:6,167,822 | C/T | — | conflicting classifications of pathogenicity |
| rs5983 | 6:6,167,833 | A/T | — | conflicting classifications of pathogenicity |
| rs377479323 | 6:6,167,838 | C/T | — | uncertain significance |
| rs746371632 | 6:6,167,858 | G/C | — | uncertain significance |
| rs6934608 | 6:6,169,890 | T/G | downstream gene variant | — |
| rs3024446 | 6:6,174,581 | G/T | — | benign |
| rs380058 | 6:6,174,786 | G/C | — | benign |
| rs2480529494 | 6:6,174,823 | C/T | — | likely benign |
| rs137945179 | 6:6,174,829 | C/G | — | uncertain significance |
| rs143711562 | 6:6,174,830 | G/A | — | conflicting classifications of pathogenicity |
| rs61734486 | 6:6,174,834 | C/T | — | uncertain significance |
| rs559216222 | 6:6,174,841 | C/T | — | likely benign |
| rs113599940 | 6:6,174,842 | G/A | — | likely benign |
| rs5986 | 6:6,174,856 | C/T | — | likely benign |
| rs372651461 | 6:6,174,865 | C/T | — | likely benign |
| rs5982 | 6:6,174,866 | G/A | — | conflicting classifications of pathogenicity |
| rs58315745 | 6:6,174,871 | C/T | — | likely benign |
| rs121913069 | 6:6,174,873 | C/T | missense variant | pathogenic |
| rs748413307 | 6:6,174,884 | G/T | — | uncertain significance |
| rs5984 | 6:6,174,908 | G/A | — | likely benign |
| rs367679357 | 6:6,174,938 | C/T | — | uncertain significance |
| rs142891701 | 6:6,174,940 | G/A | — | likely benign |
| rs1380447934 | 6:6,175,022 | A/T | — | uncertain significance |
| rs1178415419 | 6:6,175,029 | C/T | — | uncertain significance |
| rs121913068 | 6:6,175,056 | C/T | missense variant | pathogenic |
| rs372036357 | 6:6,175,057 | G/T | — | pathogenic |
| rs745888361 | 6:6,175,068 | C/A | — | uncertain significance |
| rs764753561 | 6:6,175,098 | G/C | — | uncertain significance |
| rs3024444 | 6:6,175,174 | C/T | — | benign |
| rs3778355 | 6:6,177,028 | G/T | — | — |
Showing 100 of 216 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.