SFTPC

surfactant protein C

Summary

This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]

Known Variants119 total

rsidPosition (GRCh37)AllelesClassClinVar
rs81923398:22,019,071G/A—benign
rs796476308:22,019,250C/G—benign
rs772537138:22,019,251C/T—benign
rs3772678238:22,019,275C/T—likely benign
rs3717553288:22,019,332C/G—likely benign
rs2018968618:22,019,351G/A—uncertain significance
rs1446035268:22,019,365C/G—likely benign
rs18277387198:22,019,379C/T—uncertain significance
rs5323606368:22,019,380G/A—likely benign
rs21318116988:22,019,382C/T—uncertain significance
rs1999058788:22,019,383G/A—conflicting classifications of pathogenicity
rs3751136238:22,019,397C/T—likely benign
rs7542110818:22,019,400G/A—likely benign
rs81923408:22,019,418G/A—benign
rs781773488:22,019,420G/A—benign
rs22367398:22,019,812G/A—benign
rs796420278:22,019,840A/G—benign
rs81923258:22,019,893G/A—benign
rs81923268:22,020,000C/T—benign
rs132483468:22,020,066T/C—benign
rs7542584078:22,020,079C/T—likely benign
rs794405688:22,020,080G/A—likely benign
rs3713212348:22,020,106G/A—uncertain significance
rs759024558:22,020,112G/A—likely benign
rs14584223118:22,020,127G/A—likely risk allele
rs25389409678:22,020,132C/T—uncertain significance
rs1923916558:22,020,138C/T—uncertain significance
rs25389410088:22,020,139A/T—uncertain significance
rs1835339118:22,020,159G/T—conflicting classifications of pathogenicity
rs9484135328:22,020,178T/C—uncertain significance
rs7648181908:22,020,185C/T—likely benign
rs5669140138:22,020,186G/A—conflicting classifications of pathogenicity
rs7472100998:22,020,188G/A—likely benign
rs7689818388:22,020,194T/G—uncertain significance
rs2000397208:22,020,201G/A—conflicting classifications of pathogenicity
rs12850559438:22,020,204C/T—likely benign
rs15632216668:22,020,207C/T—likely pathogenic
rs2015676238:22,020,220A/G—conflicting classifications of pathogenicity
rs25389414818:22,020,225A/G—uncertain significance
rs25389414988:22,020,231A/G—uncertain significance
rs21318154468:22,020,236C/G—likely pathogenic
rs1880745178:22,020,239G/A—likely benign
rs1219178368:22,020,240G/Amissense variantpathogenic
rs25389415418:22,020,244T/C—uncertain significance
rs3719988828:22,020,248G/A—conflicting classifications of pathogenicity
rs20706848:22,020,294A/C—benign
rs81923288:22,020,353A/G—likely benign
rs21318168068:22,020,593G/T—conflicting classifications of pathogenicity
rs25389431248:22,020,600A/G—uncertain significance
rs1219178348:22,020,609T/Cmissense variantpathogenic
rs754134908:22,020,619G/A—likely benign
rs9578899018:22,020,628G/A—uncertain significance
rs7663834848:22,020,633G/A—uncertain significance
rs7548316458:22,020,647G/A—uncertain significance
rs18278292258:22,020,650C/T—uncertain significance
rs3706414828:22,020,655G/A—likely benign
rs798660478:22,020,679C/T—likely benign
rs9276445778:22,020,680G/C—uncertain significance
rs25389436948:22,020,690G/T—uncertain significance
rs3708251028:22,020,694C/T—benign
rs7725688458:22,020,695G/A—likely risk allele
rs25389437558:22,020,698G/C—uncertain significance
rs25389437758:22,020,700G/A—likely benign
rs25389437848:22,020,701T/C—uncertain significance
rs25389438098:22,020,704G/T—pathogenic
rs21318173298:22,020,705A/T—likely pathogenic
rs15864213178:22,020,707T/C—likely pathogenic
rs2019336788:22,020,709C/A—uncertain significance
rs2000239048:22,020,720G/A—uncertain significance
rs25389451608:22,020,948G/A—pathogenic
rs10039014898:22,020,953T/C—pathogenic
rs3725291798:22,020,958G/C—likely pathogenic
rs25389452278:22,020,961T/C—likely pathogenic
rs354572168:22,020,975T/G—likely benign
rs14669328018:22,020,980C/G—uncertain significance
rs11957722318:22,020,986G/C—uncertain significance
rs25389454348:22,020,987C/G—uncertain significance
rs770345808:22,020,989A/G—uncertain significance
rs25389454968:22,020,992T/C—uncertain significance
rs10146443418:22,021,004C/G—uncertain significance
rs15544762828:22,021,021A/C—likely pathogenic
rs18278603958:22,021,030G/C—uncertain significance
rs15864223208:22,021,034T/A—uncertain significance
rs7784513288:22,021,038T/A—likely benign
rs15544762908:22,021,041A/C—uncertain significance
rs25389459518:22,021,059G/A—likely pathogenic
rs15864224278:22,021,060G/A—pathogenic
rs21318190818:22,021,061T/C—pathogenic
rs81923308:22,021,130G/A—benign
rs20706858:22,021,207T/C—benign
rs20706868:22,021,289T/C—benign
rs3749091438:22,021,399G/A—uncertain significance
rs25389480678:22,021,405T/G—uncertain significance
rs7525935368:22,021,421C/T—uncertain significance
rs2021451698:22,021,423G/C—conflicting classifications of pathogenicity
rs13063485818:22,021,433C/T—uncertain significance
rs3710136528:22,021,450G/A—likely benign
rs12099535798:22,021,459C/T—likely pathogenic
rs7660937998:22,021,483G/A—uncertain significance
rs5373831388:22,021,487G/A—uncertain significance

Showing 100 of 119 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.