CAMTA2
calmodulin binding transcription activator 2
Summary
The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2507755758 | 17:4,872,039 | G/A | — | uncertain significance |
| rs201220600 | 17:4,872,066 | C/G | — | likely benign |
| rs1972069241 | 17:4,872,078 | C/T | — | uncertain significance |
| rs141566203 | 17:4,872,093 | G/A | — | uncertain significance |
| rs747840253 | 17:4,872,209 | G/C | — | uncertain significance |
| rs1252243327 | 17:4,872,938 | C/T | — | uncertain significance |
| rs2507773695 | 17:4,872,943 | A/G | — | likely benign |
| rs1972141286 | 17:4,872,992 | C/T | — | uncertain significance |
| rs1256993595 | 17:4,873,256 | C/T | — | uncertain significance |
| rs189574616 | 17:4,873,373 | G/A | — | uncertain significance |
| rs1226837896 | 17:4,873,379 | C/T | — | uncertain significance |
| rs373840541 | 17:4,873,639 | G/C | — | uncertain significance |
| rs145978879 | 17:4,873,762 | C/T | — | uncertain significance |
| rs745990971 | 17:4,873,782 | C/A | — | uncertain significance |
| rs772687225 | 17:4,873,798 | C/T | — | uncertain significance |
| rs754591995 | 17:4,873,825 | T/C | — | uncertain significance |
| rs565049159 | 17:4,875,623 | C/G | — | uncertain significance |
| rs141604881 | 17:4,875,636 | G/C | — | uncertain significance |
| rs201333256 | 17:4,875,691 | C/G | — | uncertain significance |
| rs149983655 | 17:4,875,702 | T/C | — | conflicting classifications of pathogenicity |
| rs1972350087 | 17:4,875,720 | G/A | — | uncertain significance |
| rs111708345 | 17:4,875,781 | C/T | — | uncertain significance |
| rs202194822 | 17:4,875,784 | A/G | — | uncertain significance |
| rs777470043 | 17:4,876,130 | G/C | — | uncertain significance |
| rs758790145 | 17:4,876,156 | C/A | — | uncertain significance |
| rs79434889 | 17:4,876,157 | G/A | — | uncertain significance |
| rs1176176881 | 17:4,876,223 | C/T | — | uncertain significance |
| rs758946608 | 17:4,876,237 | C/T | — | uncertain significance |
| rs951276315 | 17:4,876,252 | G/A | — | uncertain significance |
| rs149451791 | 17:4,876,498 | T/G | — | uncertain significance |
| rs149705832 | 17:4,876,503 | C/T | — | benign |
| rs140987044 | 17:4,876,899 | C/T | — | uncertain significance |
| rs1201339476 | 17:4,876,943 | C/T | — | uncertain significance |
| rs372428242 | 17:4,876,953 | G/A | — | uncertain significance |
| rs751711713 | 17:4,876,976 | C/T | — | uncertain significance |
| rs1567687809 | 17:4,877,000 | C/T | — | uncertain significance |
| rs746583988 | 17:4,877,024 | A/T | — | uncertain significance |
| rs143219801 | 17:4,877,713 | C/T | — | likely benign |
| rs1057524315 | 17:4,881,798 | C/T | — | uncertain significance |
| rs191877524 | 17:4,881,800 | G/A | — | likely benign |
| rs764869219 | 17:4,881,825 | G/A | — | uncertain significance |
| rs749990547 | 17:4,881,826 | G/C | — | uncertain significance |
| rs370048745 | 17:4,881,850 | C/T | — | uncertain significance |
| rs775947010 | 17:4,881,883 | C/T | — | uncertain significance |
| rs199993069 | 17:4,881,889 | C/T | — | uncertain significance |
| rs148099646 | 17:4,882,132 | C/A | downstream gene variant | — |
| rs1388978862 | 17:4,883,139 | A/G | — | uncertain significance |
| rs376564975 | 17:4,883,140 | C/T | — | uncertain significance |
| rs1189858028 | 17:4,883,224 | G/A | — | uncertain significance |
| rs1972855382 | 17:4,883,232 | A/G | — | uncertain significance |
| rs2507890979 | 17:4,883,239 | G/C | — | uncertain significance |
| rs1381920356 | 17:4,883,442 | C/A | — | uncertain significance |
| rs145724371 | 17:4,883,515 | G/A | — | uncertain significance |
| rs765970494 | 17:4,883,530 | C/T | — | uncertain significance |
| rs117276029 | 17:4,883,588 | G/A | — | benign |
| rs552223743 | 17:4,883,673 | C/T | — | uncertain significance |
| rs749205617 | 17:4,883,691 | G/C | — | uncertain significance |
| rs143602830 | 17:4,883,761 | C/T | — | uncertain significance |
| rs2507898754 | 17:4,883,763 | T/C | — | uncertain significance |
| rs762010346 | 17:4,883,779 | G/A | — | uncertain significance |
| rs755278383 | 17:4,883,789 | T/C | — | uncertain significance |
| rs199658398 | 17:4,883,809 | G/C | — | uncertain significance |
| rs238234 | 17:4,883,818 | G/C | — | benign |
| rs151218090 | 17:4,883,888 | G/A | — | likely benign |
| rs1434304519 | 17:4,884,529 | C/G | — | uncertain significance |
| rs767517410 | 17:4,885,006 | G/C | — | uncertain significance |
| rs770000808 | 17:4,885,068 | T/C | — | uncertain significance |
| rs147743213 | 17:4,885,375 | C/A | — | benign |
| rs201830300 | 17:4,886,287 | A/G | — | uncertain significance |
| rs141104576 | 17:4,889,191 | C/T | — | uncertain significance |
| rs370620775 | 17:4,889,245 | T/C | — | uncertain significance |
| rs374363604 | 17:4,889,519 | G/T | — | uncertain significance |
| rs2507945104 | 17:4,889,525 | G/A | — | uncertain significance |
| rs960606241 | 17:4,889,549 | G/A | — | uncertain significance |
| rs1567701508 | 17:4,889,556 | G/C | — | uncertain significance |
| rs1023395706 | 17:4,889,559 | G/T | — | uncertain significance |
| rs201093195 | 17:4,889,562 | G/A | — | uncertain significance |
| rs763766312 | 17:4,889,573 | G/A | — | uncertain significance |
| rs1973446962 | 17:4,890,930 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.