IQSEC1
IQ motif and Sec7 domain ArfGEF 1
Summary
Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including positive regulation of focal adhesion disassembly; positive regulation of keratinocyte migration; and regulation of postsynaptic neurotransmitter receptor internalization. Located in centrosome; cytosol; and nucleoplasm. Implicated in intellectual developmental disorder with short stature and behavioral abnormalities and lung adenocarcinoma. Biomarker of lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants153 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs897202413 | 3:12,942,501 | C/A | — | uncertain significance |
| rs199524243 | 3:12,942,577 | C/T | — | benign |
| rs2470196052 | 3:12,942,583 | C/T | — | uncertain significance |
| rs1485996235 | 3:12,942,588 | G/A | — | uncertain significance |
| rs561842869 | 3:12,942,594 | G/A | — | uncertain significance |
| rs2470196932 | 3:12,942,603 | C/T | — | uncertain significance |
| rs559459711 | 3:12,942,625 | C/T | — | likely benign |
| rs2470201325 | 3:12,942,684 | G/A | — | uncertain significance |
| rs2470202078 | 3:12,942,694 | G/A | — | uncertain significance |
| rs2470202234 | 3:12,942,697 | G/A | — | uncertain significance |
| rs73141360 | 3:12,942,710 | C/T | — | benign |
| rs375583511 | 3:12,942,749 | C/T | — | likely benign |
| rs534679416 | 3:12,942,758 | G/A | — | likely benign |
| rs185165059 | 3:12,942,760 | C/G | — | benign |
| rs571426372 | 3:12,942,761 | G/A | — | likely benign |
| rs573868764 | 3:12,942,788 | C/T | — | benign |
| rs2470205712 | 3:12,942,798 | C/T | — | uncertain significance |
| rs771724385 | 3:12,942,799 | C/T | — | uncertain significance |
| rs2470207215 | 3:12,942,843 | G/A | — | uncertain significance |
| rs763918726 | 3:12,942,844 | G/A | — | uncertain significance |
| rs866819128 | 3:12,942,848 | T/G | — | likely benign |
| rs2470207924 | 3:12,942,858 | T/G | — | likely benign |
| rs531061235 | 3:12,942,939 | G/A | — | likely benign |
| rs951421953 | 3:12,942,970 | T/A | — | uncertain significance |
| rs1455683012 | 3:12,942,992 | G/A | — | uncertain significance |
| rs1166659846 | 3:12,942,994 | C/T | — | uncertain significance |
| rs190809678 | 3:12,943,013 | T/G | — | likely benign |
| rs746943683 | 3:12,943,018 | G/A | — | uncertain significance |
| rs139603221 | 3:12,944,298 | G/A | — | uncertain significance |
| rs1694511803 | 3:12,944,314 | C/T | — | likely benign |
| rs2600324 | 3:12,945,271 | A/T | — | — |
| rs761827844 | 3:12,949,857 | G/A | — | uncertain significance |
| rs560424556 | 3:12,949,867 | G/A | — | uncertain significance |
| rs1695213659 | 3:12,949,878 | C/T | — | uncertain significance |
| rs751139467 | 3:12,949,906 | C/T | — | uncertain significance |
| rs750854478 | 3:12,949,962 | T/C | — | uncertain significance |
| rs562700735 | 3:12,949,999 | C/T | — | uncertain significance |
| rs17541405 | 3:12,950,002 | C/T | — | likely benign |
| rs1173528131 | 3:12,950,832 | G/A | — | uncertain significance |
| rs369092436 | 3:12,950,842 | T/G | — | uncertain significance |
| rs776155190 | 3:12,950,856 | T/C | — | uncertain significance |
| rs764683803 | 3:12,950,864 | G/A | — | likely benign |
| rs1575872344 | 3:12,953,133 | G/T | — | uncertain significance |
| rs146668270 | 3:12,953,139 | G/C | — | uncertain significance |
| rs777516598 | 3:12,953,191 | G/A | — | uncertain significance |
| rs776467062 | 3:12,954,972 | C/T | — | uncertain significance |
| rs751976525 | 3:12,955,050 | G/A | — | uncertain significance |
| rs2596902 | 3:12,955,982 | G/A | intron variant | — |
| rs1695949791 | 3:12,956,599 | C/T | — | uncertain significance |
| rs200169490 | 3:12,957,095 | G/A | — | uncertain significance |
| rs2470539903 | 3:12,957,159 | T/C | — | uncertain significance |
| rs1387907971 | 3:12,957,165 | C/G | — | uncertain significance |
| rs202207235 | 3:12,957,167 | C/A | — | uncertain significance |
| rs199955395 | 3:12,957,173 | C/A | — | uncertain significance |
| rs141163963 | 3:12,957,174 | G/T | — | uncertain significance |
| rs762188644 | 3:12,957,180 | G/C | — | uncertain significance |
| rs2470540966 | 3:12,957,195 | T/G | — | uncertain significance |
| rs368596372 | 3:12,961,941 | T/C | — | uncertain significance |
| rs146107147 | 3:12,961,967 | C/G | — | likely benign |
| rs768263052 | 3:12,962,046 | G/A | — | uncertain significance |
| rs766638538 | 3:12,962,047 | G/C | — | uncertain significance |
| rs754235473 | 3:12,962,052 | C/T | — | uncertain significance |
| rs763033732 | 3:12,962,063 | C/T | — | likely benign |
| rs2470689143 | 3:12,963,627 | C/A | — | uncertain significance |
| rs776067968 | 3:12,963,673 | G/A | — | likely benign |
| rs199999091 | 3:12,963,730 | G/A | — | likely benign |
| rs753411185 | 3:12,966,089 | G/A | — | likely benign |
| rs900390606 | 3:12,966,100 | A/C | — | uncertain significance |
| rs1205441472 | 3:12,966,127 | C/T | — | uncertain significance |
| rs62242670 | 3:12,967,889 | G/A | intron variant | — |
| rs767440268 | 3:12,976,968 | G/A | — | likely benign |
| rs151292454 | 3:12,976,989 | G/A | — | likely benign |
| rs3732685 | 3:12,977,088 | C/T | — | likely benign |
| rs1698101113 | 3:12,977,135 | T/C | — | uncertain significance |
| rs141042552 | 3:12,977,185 | T/G | — | uncertain significance |
| rs144790333 | 3:12,977,230 | C/T | — | likely benign |
| rs756600213 | 3:12,977,239 | C/T | — | uncertain significance |
| rs142922898 | 3:12,977,245 | C/T | — | uncertain significance |
| rs535113723 | 3:12,977,246 | G/A | — | uncertain significance |
| rs2470957400 | 3:12,977,280 | G/A | — | likely benign |
| rs746716911 | 3:12,977,285 | C/T | — | uncertain significance |
| rs150386585 | 3:12,977,335 | T/C | — | uncertain significance |
| rs149092904 | 3:12,977,370 | C/T | — | likely benign |
| rs866307730 | 3:12,977,374 | C/T | — | uncertain significance |
| rs754606659 | 3:12,977,375 | G/A | — | uncertain significance |
| rs764277311 | 3:12,977,438 | C/T | — | uncertain significance |
| rs148427042 | 3:12,977,451 | C/G | — | uncertain significance |
| rs745615824 | 3:12,977,470 | G/A | — | uncertain significance |
| rs765723607 | 3:12,977,488 | G/A | — | pathogenic |
| rs773884376 | 3:12,977,493 | C/G | — | likely benign |
| rs372228887 | 3:12,977,543 | C/T | — | conflicting classifications of pathogenicity |
| rs758170522 | 3:12,977,554 | C/T | — | likely pathogenic |
| rs747195858 | 3:12,977,555 | G/A | — | uncertain significance |
| rs748215013 | 3:12,977,560 | C/G | — | uncertain significance |
| rs1698161896 | 3:12,977,567 | C/A | — | uncertain significance |
| rs143222651 | 3:12,977,574 | G/A | — | likely benign |
| rs1021596365 | 3:12,977,575 | G/C | — | uncertain significance |
| rs759831591 | 3:12,977,576 | T/C | — | uncertain significance |
| rs544776500 | 3:12,977,583 | C/T | — | likely benign |
| rs561571211 | 3:12,977,584 | G/A | — | uncertain significance |
Showing 100 of 153 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.