SEC23IP
SEC23 interacting protein
Summary
This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Known Variants80 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770893573 | 10:121,652,304 | A/G | — | uncertain significance |
| rs1466750858 | 10:121,652,317 | G/C | — | uncertain significance |
| rs774300336 | 10:121,652,374 | C/T | — | uncertain significance |
| rs2493599734 | 10:121,652,380 | C/T | — | uncertain significance |
| rs143533688 | 10:121,652,395 | A/G | — | uncertain significance |
| rs73357833 | 10:121,652,427 | G/A | — | benign |
| rs141132251 | 10:121,652,442 | C/T | — | benign |
| rs750824114 | 10:121,657,999 | C/T | — | uncertain significance |
| rs7094098 | 10:121,658,105 | A/G | — | benign |
| rs187525199 | 10:121,658,117 | C/T | — | likely benign |
| rs2493614174 | 10:121,658,118 | A/G | — | uncertain significance |
| rs745617525 | 10:121,658,188 | C/T | — | uncertain significance |
| rs768263159 | 10:121,658,198 | A/T | — | uncertain significance |
| rs754259680 | 10:121,658,223 | A/G | — | uncertain significance |
| rs754603111 | 10:121,658,288 | A/T | — | uncertain significance |
| rs145997043 | 10:121,658,325 | C/T | — | uncertain significance |
| rs201464386 | 10:121,658,365 | C/T | — | uncertain significance |
| rs148955366 | 10:121,658,400 | T/C | — | benign |
| rs201448611 | 10:121,658,454 | C/G | — | uncertain significance |
| rs756728400 | 10:121,658,467 | C/G | — | uncertain significance |
| rs746343782 | 10:121,658,470 | C/T | — | uncertain significance |
| rs2456722 | 10:121,659,811 | A/T | — | — |
| rs11199116 | 10:121,660,400 | A/C | intron variant | — |
| rs916068456 | 10:121,662,353 | G/T | — | uncertain significance |
| rs147102546 | 10:121,662,413 | G/A | — | uncertain significance |
| rs2493623491 | 10:121,662,422 | C/T | — | uncertain significance |
| rs2493623688 | 10:121,662,514 | T/A | — | uncertain significance |
| rs114941955 | 10:121,663,619 | G/A | — | uncertain significance |
| rs1413034560 | 10:121,663,665 | G/A | — | uncertain significance |
| rs2493626303 | 10:121,663,673 | A/C | — | uncertain significance |
| rs368006972 | 10:121,668,546 | A/C | — | likely benign |
| rs140393455 | 10:121,668,548 | T/A | — | benign |
| rs200433648 | 10:121,671,601 | A/G | — | likely benign |
| rs142665854 | 10:121,671,605 | C/T | — | likely benign |
| rs1393078140 | 10:121,671,633 | T/A | — | likely benign |
| rs17099368 | 10:121,671,651 | T/C | — | benign |
| rs1216385926 | 10:121,671,679 | G/A | — | likely benign |
| rs149785042 | 10:121,674,292 | C/T | — | uncertain significance |
| rs201905641 | 10:121,675,251 | C/A | — | benign |
| rs145679618 | 10:121,675,324 | C/T | — | likely benign |
| rs147738230 | 10:121,675,376 | G/A | — | uncertain significance |
| rs1337988670 | 10:121,675,392 | G/A | — | uncertain significance |
| rs757541400 | 10:121,677,380 | G/T | — | uncertain significance |
| rs750514756 | 10:121,677,383 | G/A | — | uncertain significance |
| rs774702658 | 10:121,677,457 | G/A | — | uncertain significance |
| rs1205480013 | 10:121,677,987 | T/C | — | likely benign |
| rs79728865 | 10:121,678,590 | C/T | intron variant | — |
| rs369465677 | 10:121,678,957 | T/C | — | uncertain significance |
| rs1288930933 | 10:121,678,959 | C/A | — | uncertain significance |
| rs114045527 | 10:121,678,995 | G/C | — | benign |
| rs2475298 | 10:121,679,013 | A/G | — | benign |
| rs2493662079 | 10:121,679,101 | A/G | — | uncertain significance |
| rs11199121 | 10:121,679,833 | C/A | intron variant | — |
| rs144973930 | 10:121,683,274 | T/C | intron variant | — |
| rs12771873 | 10:121,685,559 | G/A | — | benign |
| rs150192084 | 10:121,685,579 | C/T | — | likely benign |
| rs141474254 | 10:121,685,653 | A/G | — | uncertain significance |
| rs202164600 | 10:121,685,654 | A/G | — | uncertain significance |
| rs760151239 | 10:121,685,734 | G/A | — | uncertain significance |
| rs140615578 | 10:121,685,749 | C/T | — | benign |
| rs56122778 | 10:121,687,731 | T/G | intron variant | — |
| rs145338788 | 10:121,689,182 | A/C | — | uncertain significance |
| rs147754339 | 10:121,689,188 | A/G | — | uncertain significance |
| rs139977415 | 10:121,689,232 | C/T | — | likely benign |
| rs190606694 | 10:121,689,273 | C/T | — | uncertain significance |
| rs200633732 | 10:121,689,855 | A/G | — | likely benign |
| rs781519695 | 10:121,691,741 | G/A | — | uncertain significance |
| rs780066966 | 10:121,691,749 | A/G | — | uncertain significance |
| rs369255142 | 10:121,691,805 | A/T | — | uncertain significance |
| rs777637887 | 10:121,692,537 | C/T | — | uncertain significance |
| rs148970184 | 10:121,692,565 | T/C | — | uncertain significance |
| rs2493691580 | 10:121,692,582 | T/A | — | uncertain significance |
| rs762480287 | 10:121,692,600 | A/G | — | uncertain significance |
| rs58111481 | 10:121,693,194 | A/T | — | benign |
| rs377380377 | 10:121,693,242 | G/A | — | uncertain significance |
| rs34826964 | 10:121,693,246 | A/G | — | benign |
| rs375370510 | 10:121,693,250 | A/G | — | uncertain significance |
| rs144594354 | 10:121,693,276 | T/C | — | likely benign |
| rs72826466 | 10:121,695,483 | A/G | intron variant | — |
| rs10686 | 10:121,701,160 | G/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.