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

rsidPosition (GRCh37)AllelesClassClinVar
rs213590845212:94,542,758C/Tuncertain significance
rs93102049612:94,542,773C/Tuncertain significance
rs139494908312:94,542,784C/Auncertain significance
rs76889348412:94,542,797C/Guncertain significance
rs131250677012:94,542,970A/Clikely benign
rs55404987812:94,542,972C/Glikely benign
rs120216018812:94,542,988C/Guncertain significance
rs56589482312:94,543,005C/Guncertain significance
rs78136741512:94,543,021T/Cuncertain significance
rs254074392712:94,543,027G/Auncertain significance
rs135745265212:94,543,097C/Tuncertain significance
rs20150973412:94,543,243G/Auncertain significance
rs57617218212:94,543,252G/Auncertain significance
rs254074498412:94,543,259G/Cuncertain significance
rs254074499212:94,543,261A/Cuncertain significance
rs254074499912:94,543,263C/Guncertain significance
rs254074534712:94,543,349A/Glikely benign
rs254074536612:94,543,352A/Guncertain significance
rs254074537212:94,543,353C/Auncertain significance
rs254074537912:94,543,355C/Tuncertain significance
rs254074557612:94,543,418A/Guncertain significance
rs254074559712:94,543,423T/Clikely benign
rs254074563312:94,543,433C/Guncertain significance
rs54359579312:94,543,471G/Cuncertain significance
rs20061900412:94,543,526G/Cuncertain significance
rs125898809512:94,543,544G/Tuncertain significance
rs77744852812:94,543,552C/Auncertain significance
rs116479655512:94,543,559C/Auncertain significance
rs254074624012:94,543,585T/Glikely benign
rs98033984112:94,543,660G/Auncertain significance
rs76556479212:94,543,687G/Alikely benign
rs77362262812:94,543,759G/Tuncertain significance
rs236135912:94,562,875C/T
rs53695834112:94,562,987C/Tuncertain significance
rs76286162912:94,563,029C/Tuncertain significance
rs14495292112:94,575,268A/Guncertain significance
rs54295944212:94,580,213C/Tuncertain significance
rs37183921112:94,580,240C/Tuncertain significance
rs476159212:94,595,830T/Cintron variant
rs3456597512:94,603,406G/Cbenign
rs254082123712:94,603,407A/Cuncertain significance
rs14551264412:94,603,424T/Guncertain significance
rs796171212:94,604,963G/C
rs500550712:94,611,908G/Cintron variant
rs11732457612:94,613,786G/Abenign
rs37114367112:94,613,804A/Glikely benign
rs11490521712:94,613,864A/Tbenign
rs254083500312:94,613,876C/Guncertain significance
rs11475853012:94,613,883A/Glikely benign
rs14651001512:94,613,897C/Tuncertain significance
rs11646561712:94,618,084T/Clikely benign
rs76176974812:94,620,389C/Auncertain significance
rs77289185812:94,620,394G/Alikely benign
rs11461701812:94,620,411G/Alikely benign
rs254084315912:94,620,428G/Auncertain significance
rs7567498912:94,620,432G/Tmissense variant
rs77305305912:94,620,457G/Auncertain significance
rs14330460812:94,620,959G/Auncertain significance
rs75425666212:94,620,982A/Cuncertain significance
rs14754777712:94,620,991A/Guncertain significance
rs5912988312:94,621,615T/Aintron variant
rs797200112:94,623,502C/Tintron variant
rs254086375212:94,634,295A/Guncertain significance
rs37061631012:94,637,725A/Guncertain significance
rs74996551612:94,637,778C/Guncertain significance
rs196446060112:94,637,787A/Cuncertain significance
rs74992359112:94,641,698C/Tuncertain significance
rs74933883912:94,641,746G/Auncertain significance
rs76854083712:94,641,784T/Cuncertain significance
rs37644894412:94,641,816G/Tuncertain significance
rs254088697412:94,649,067C/Tuncertain significance
rs76736787212:94,653,147T/Guncertain significance
rs37654444012:94,653,400C/Tlikely benign
rs254089300312:94,653,411A/Guncertain significance
rs254089303512:94,653,419A/Guncertain significance
rs77282471412:94,654,522A/Tuncertain significance
rs7979428812:94,654,560G/Auncertain significance
rs97999153412:94,658,870C/Guncertain significance
rs54193666112:94,658,921G/Auncertain significance
rs254090347912:94,658,974G/Alikely benign
rs11264741912:94,662,513G/T
rs196626743212:94,673,284G/Auncertain significance
rs36808802912:94,673,290G/Auncertain significance
rs14674732412:94,673,299T/Clikely benign
rs74611856212:94,673,318A/Guncertain significance
rs124421484912:94,676,094C/Auncertain significance
rs89591440012:94,676,127G/Auncertain significance
rs155520858112:94,676,181A/Guncertain significance
rs11469750212:94,677,559C/G
rs476147012:94,683,204G/C
rs20186387512:94,691,105C/Tuncertain significance
rs11485020312:94,691,130A/Glikely benign
rs75145992212:94,691,192C/Tuncertain significance
rs14790524212:94,692,412C/Guncertain significance
rs11540815612:94,692,478T/Alikely benign
rs5629060912:94,692,827A/Tintron variant
rs6173343212:94,694,692T/Cbenign
rs116394719112:94,694,722C/Auncertain significance
rs254101685512:94,694,777G/Auncertain significance
rs105797812:94,697,524T/Cbenign

Showing 100 of 105 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.