CARD9
caspase recruitment domain family member 9
Summary
The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
Known Variants461 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1135314 | 9:139,258,462 | G/A | — | benign |
| rs570507065 | 9:139,258,508 | G/C | — | likely benign |
| rs373574599 | 9:139,258,510 | A/C | — | uncertain significance |
| rs564615796 | 9:139,258,615 | C/T | — | uncertain significance |
| rs545913331 | 9:139,258,624 | C/T | — | uncertain significance |
| rs1345187433 | 9:139,258,697 | G/A | — | uncertain significance |
| rs768039619 | 9:139,258,760 | G/A | — | likely benign |
| rs577731110 | 9:139,258,767 | G/A | — | uncertain significance |
| rs151057624 | 9:139,258,769 | G/A | — | benign |
| rs754121945 | 9:139,258,772 | G/A | — | likely benign |
| rs1358233637 | 9:139,258,773 | G/A | — | uncertain significance |
| rs199747017 | 9:139,258,775 | G/A | — | likely benign |
| rs765707859 | 9:139,258,787 | C/T | — | likely benign |
| rs1162006405 | 9:139,258,788 | G/C | — | uncertain significance |
| rs2131430592 | 9:139,258,789 | T/C | — | uncertain significance |
| rs1425733902 | 9:139,258,791 | G/A | — | uncertain significance |
| rs141310444 | 9:139,258,794 | T/G | — | uncertain significance |
| rs144943839 | 9:139,258,798 | C/G | — | uncertain significance |
| rs745730969 | 9:139,258,800 | C/T | — | conflicting classifications of pathogenicity |
| rs2131430667 | 9:139,258,802 | G/C | — | uncertain significance |
| rs2131430673 | 9:139,258,803 | T/G | — | uncertain significance |
| rs370908281 | 9:139,258,804 | C/T | — | uncertain significance |
| rs888151831 | 9:139,258,813 | C/A | — | uncertain significance |
| rs77469895 | 9:139,258,814 | C/G | — | uncertain significance |
| rs773889930 | 9:139,258,819 | G/A | — | uncertain significance |
| rs761418899 | 9:139,258,820 | C/T | — | uncertain significance |
| rs1036710533 | 9:139,258,824 | C/G | — | uncertain significance |
| rs766890741 | 9:139,258,825 | C/T | — | uncertain significance |
| rs761020680 | 9:139,258,829 | C/T | — | likely benign |
| rs900948789 | 9:139,258,835 | C/T | — | likely benign |
| rs766920744 | 9:139,258,839 | C/T | — | uncertain significance |
| rs1334589111 | 9:139,258,840 | T/C | — | uncertain significance |
| rs1405347175 | 9:139,258,845 | G/A | — | uncertain significance |
| rs1285747619 | 9:139,258,848 | C/T | — | uncertain significance |
| rs1201296952 | 9:139,258,862 | A/G | — | likely benign |
| rs1833064645 | 9:139,258,871 | T/C | — | likely benign |
| rs1212621634 | 9:139,258,873 | A/G | — | likely benign |
| rs1016041460 | 9:139,258,916 | C/T | — | likely benign |
| rs1437596331 | 9:139,258,928 | C/T | — | likely benign |
| rs761314867 | 9:139,258,930 | C/T | — | uncertain significance |
| rs1489924914 | 9:139,258,939 | G/A | — | uncertain significance |
| rs1430111733 | 9:139,258,946 | C/T | — | likely benign |
| rs974044165 | 9:139,258,954 | T/A | — | uncertain significance |
| rs778435234 | 9:139,258,957 | C/T | — | uncertain significance |
| rs149308743 | 9:139,258,965 | C/T | — | uncertain significance |
| rs368839062 | 9:139,258,967 | C/T | — | likely benign |
| rs1339311526 | 9:139,258,972 | G/T | — | likely benign |
| rs1453391726 | 9:139,258,981 | C/T | — | uncertain significance |
| rs765637340 | 9:139,258,982 | G/T | — | likely benign |
| rs937941144 | 9:139,258,985 | C/T | — | likely benign |
| rs1188918578 | 9:139,258,990 | C/G | — | uncertain significance |
| rs2538651834 | 9:139,258,992 | C/G | — | uncertain significance |
| rs758540382 | 9:139,258,994 | G/A | — | likely benign |
| rs1833070000 | 9:139,259,000 | C/G | — | likely benign |
| rs1833070179 | 9:139,259,005 | C/G | — | uncertain significance |
| rs930352441 | 9:139,259,007 | G/T | — | uncertain significance |
| rs1442164218 | 9:139,259,008 | C/T | — | uncertain significance |
| rs1406534280 | 9:139,259,009 | G/T | — | uncertain significance |
| rs909815670 | 9:139,259,011 | C/T | — | uncertain significance |
| rs1436505855 | 9:139,259,017 | G/A | — | conflicting classifications of pathogenicity |
| rs570529040 | 9:139,259,031 | C/T | — | likely benign |
| rs968537290 | 9:139,259,579 | C/T | — | likely benign |
| rs764189894 | 9:139,259,580 | G/A | — | likely benign |
| rs751739563 | 9:139,259,583 | G/T | — | likely benign |
| rs141992399 | 9:139,259,592 | C/G | — | conflicting classifications of pathogenicity |
| rs150480370 | 9:139,259,593 | A/G | — | uncertain significance |
| rs1588719771 | 9:139,259,594 | T/C | — | uncertain significance |
| rs2131432720 | 9:139,259,595 | G/C | — | uncertain significance |
| rs374115294 | 9:139,259,603 | C/A | — | conflicting classifications of pathogenicity |
| rs202052103 | 9:139,259,604 | G/A | — | likely benign |
| rs1833090922 | 9:139,259,606 | A/G | — | uncertain significance |
| rs199617524 | 9:139,259,617 | C/T | — | likely benign |
| rs1588719803 | 9:139,259,620 | G/T | — | uncertain significance |
| rs770567400 | 9:139,259,622 | G/A | — | uncertain significance |
| rs1274807379 | 9:139,259,623 | C/T | — | likely benign |
| rs776273002 | 9:139,259,632 | A/C | — | uncertain significance |
| rs373635926 | 9:139,259,634 | A/G | — | uncertain significance |
| rs1266195975 | 9:139,259,636 | G/A | — | uncertain significance |
| rs770178187 | 9:139,259,638 | C/G | — | uncertain significance |
| rs138344913 | 9:139,259,644 | C/T | — | likely benign |
| rs774571551 | 9:139,259,645 | G/A | — | uncertain significance |
| rs759571184 | 9:139,259,650 | C/T | — | likely benign |
| rs550933016 | 9:139,259,653 | C/G | — | likely benign |
| rs144348041 | 9:139,259,654 | C/A | — | uncertain significance |
| rs756953515 | 9:139,259,658 | C/T | — | uncertain significance |
| rs200189320 | 9:139,259,666 | C/T | — | uncertain significance |
| rs1489024588 | 9:139,259,668 | G/T | — | likely benign |
| rs745340091 | 9:139,259,669 | C/T | — | uncertain significance |
| rs2538654287 | 9:139,259,670 | C/T | — | likely pathogenic |
| rs2538654327 | 9:139,259,687 | G/A | — | likely benign |
| rs768908899 | 9:139,259,688 | C/T | — | likely benign |
| rs773448435 | 9:139,261,234 | C/T | — | likely benign |
| rs61744202 | 9:139,261,236 | G/A | — | benign |
| rs372095913 | 9:139,261,239 | G/A | — | likely benign |
| rs1228496867 | 9:139,261,247 | C/G | — | uncertain significance |
| rs1833134746 | 9:139,261,254 | T/A | — | uncertain significance |
| rs375345378 | 9:139,261,256 | G/A | — | likely benign |
| rs1411071075 | 9:139,261,258 | C/T | — | uncertain significance |
| rs774391206 | 9:139,261,268 | G/A | — | conflicting classifications of pathogenicity |
| rs761720338 | 9:139,261,273 | C/T | — | uncertain significance |
Showing 100 of 461 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.