PLXNC1
plexin C1
Summary
This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants105 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2135908452 | 12:94,542,758 | C/T | — | uncertain significance |
| rs931020496 | 12:94,542,773 | C/T | — | uncertain significance |
| rs1394949083 | 12:94,542,784 | C/A | — | uncertain significance |
| rs768893484 | 12:94,542,797 | C/G | — | uncertain significance |
| rs1312506770 | 12:94,542,970 | A/C | — | likely benign |
| rs554049878 | 12:94,542,972 | C/G | — | likely benign |
| rs1202160188 | 12:94,542,988 | C/G | — | uncertain significance |
| rs565894823 | 12:94,543,005 | C/G | — | uncertain significance |
| rs781367415 | 12:94,543,021 | T/C | — | uncertain significance |
| rs2540743927 | 12:94,543,027 | G/A | — | uncertain significance |
| rs1357452652 | 12:94,543,097 | C/T | — | uncertain significance |
| rs201509734 | 12:94,543,243 | G/A | — | uncertain significance |
| rs576172182 | 12:94,543,252 | G/A | — | uncertain significance |
| rs2540744984 | 12:94,543,259 | G/C | — | uncertain significance |
| rs2540744992 | 12:94,543,261 | A/C | — | uncertain significance |
| rs2540744999 | 12:94,543,263 | C/G | — | uncertain significance |
| rs2540745347 | 12:94,543,349 | A/G | — | likely benign |
| rs2540745366 | 12:94,543,352 | A/G | — | uncertain significance |
| rs2540745372 | 12:94,543,353 | C/A | — | uncertain significance |
| rs2540745379 | 12:94,543,355 | C/T | — | uncertain significance |
| rs2540745576 | 12:94,543,418 | A/G | — | uncertain significance |
| rs2540745597 | 12:94,543,423 | T/C | — | likely benign |
| rs2540745633 | 12:94,543,433 | C/G | — | uncertain significance |
| rs543595793 | 12:94,543,471 | G/C | — | uncertain significance |
| rs200619004 | 12:94,543,526 | G/C | — | uncertain significance |
| rs1258988095 | 12:94,543,544 | G/T | — | uncertain significance |
| rs777448528 | 12:94,543,552 | C/A | — | uncertain significance |
| rs1164796555 | 12:94,543,559 | C/A | — | uncertain significance |
| rs2540746240 | 12:94,543,585 | T/G | — | likely benign |
| rs980339841 | 12:94,543,660 | G/A | — | uncertain significance |
| rs765564792 | 12:94,543,687 | G/A | — | likely benign |
| rs773622628 | 12:94,543,759 | G/T | — | uncertain significance |
| rs2361359 | 12:94,562,875 | C/T | — | — |
| rs536958341 | 12:94,562,987 | C/T | — | uncertain significance |
| rs762861629 | 12:94,563,029 | C/T | — | uncertain significance |
| rs144952921 | 12:94,575,268 | A/G | — | uncertain significance |
| rs542959442 | 12:94,580,213 | C/T | — | uncertain significance |
| rs371839211 | 12:94,580,240 | C/T | — | uncertain significance |
| rs4761592 | 12:94,595,830 | T/C | intron variant | — |
| rs34565975 | 12:94,603,406 | G/C | — | benign |
| rs2540821237 | 12:94,603,407 | A/C | — | uncertain significance |
| rs145512644 | 12:94,603,424 | T/G | — | uncertain significance |
| rs7961712 | 12:94,604,963 | G/C | — | — |
| rs5005507 | 12:94,611,908 | G/C | intron variant | — |
| rs117324576 | 12:94,613,786 | G/A | — | benign |
| rs371143671 | 12:94,613,804 | A/G | — | likely benign |
| rs114905217 | 12:94,613,864 | A/T | — | benign |
| rs2540835003 | 12:94,613,876 | C/G | — | uncertain significance |
| rs114758530 | 12:94,613,883 | A/G | — | likely benign |
| rs146510015 | 12:94,613,897 | C/T | — | uncertain significance |
| rs116465617 | 12:94,618,084 | T/C | — | likely benign |
| rs761769748 | 12:94,620,389 | C/A | — | uncertain significance |
| rs772891858 | 12:94,620,394 | G/A | — | likely benign |
| rs114617018 | 12:94,620,411 | G/A | — | likely benign |
| rs2540843159 | 12:94,620,428 | G/A | — | uncertain significance |
| rs75674989 | 12:94,620,432 | G/T | missense variant | — |
| rs773053059 | 12:94,620,457 | G/A | — | uncertain significance |
| rs143304608 | 12:94,620,959 | G/A | — | uncertain significance |
| rs754256662 | 12:94,620,982 | A/C | — | uncertain significance |
| rs147547777 | 12:94,620,991 | A/G | — | uncertain significance |
| rs59129883 | 12:94,621,615 | T/A | intron variant | — |
| rs7972001 | 12:94,623,502 | C/T | intron variant | — |
| rs2540863752 | 12:94,634,295 | A/G | — | uncertain significance |
| rs370616310 | 12:94,637,725 | A/G | — | uncertain significance |
| rs749965516 | 12:94,637,778 | C/G | — | uncertain significance |
| rs1964460601 | 12:94,637,787 | A/C | — | uncertain significance |
| rs749923591 | 12:94,641,698 | C/T | — | uncertain significance |
| rs749338839 | 12:94,641,746 | G/A | — | uncertain significance |
| rs768540837 | 12:94,641,784 | T/C | — | uncertain significance |
| rs376448944 | 12:94,641,816 | G/T | — | uncertain significance |
| rs2540886974 | 12:94,649,067 | C/T | — | uncertain significance |
| rs767367872 | 12:94,653,147 | T/G | — | uncertain significance |
| rs376544440 | 12:94,653,400 | C/T | — | likely benign |
| rs2540893003 | 12:94,653,411 | A/G | — | uncertain significance |
| rs2540893035 | 12:94,653,419 | A/G | — | uncertain significance |
| rs772824714 | 12:94,654,522 | A/T | — | uncertain significance |
| rs79794288 | 12:94,654,560 | G/A | — | uncertain significance |
| rs979991534 | 12:94,658,870 | C/G | — | uncertain significance |
| rs541936661 | 12:94,658,921 | G/A | — | uncertain significance |
| rs2540903479 | 12:94,658,974 | G/A | — | likely benign |
| rs112647419 | 12:94,662,513 | G/T | — | — |
| rs1966267432 | 12:94,673,284 | G/A | — | uncertain significance |
| rs368088029 | 12:94,673,290 | G/A | — | uncertain significance |
| rs146747324 | 12:94,673,299 | T/C | — | likely benign |
| rs746118562 | 12:94,673,318 | A/G | — | uncertain significance |
| rs1244214849 | 12:94,676,094 | C/A | — | uncertain significance |
| rs895914400 | 12:94,676,127 | G/A | — | uncertain significance |
| rs1555208581 | 12:94,676,181 | A/G | — | uncertain significance |
| rs114697502 | 12:94,677,559 | C/G | — | — |
| rs4761470 | 12:94,683,204 | G/C | — | — |
| rs201863875 | 12:94,691,105 | C/T | — | uncertain significance |
| rs114850203 | 12:94,691,130 | A/G | — | likely benign |
| rs751459922 | 12:94,691,192 | C/T | — | uncertain significance |
| rs147905242 | 12:94,692,412 | C/G | — | uncertain significance |
| rs115408156 | 12:94,692,478 | T/A | — | likely benign |
| rs56290609 | 12:94,692,827 | A/T | intron variant | — |
| rs61733432 | 12:94,694,692 | T/C | — | benign |
| rs1163947191 | 12:94,694,722 | C/A | — | uncertain significance |
| rs2541016855 | 12:94,694,777 | G/A | — | uncertain significance |
| rs1057978 | 12:94,697,524 | T/C | — | benign |
Showing 100 of 105 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.