CA4

carbonic anhydrase 4

Summary

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]

Known Variants265 total

rsidPosition (GRCh37)AllelesClassClinVar
rs54374371417:58,227,320G/C—likely benign
rs36798162817:58,227,349C/G—benign
rs34519117:58,227,372G/C—benign
rs141423596417:58,227,398G/A—uncertain significance
rs36775080217:58,227,399C/A—likely benign
rs254450197917:58,227,401G/A—likely benign
rs128655419617:58,227,403T/C—uncertain significance
rs102464169417:58,227,406T/C—uncertain significance
rs76118809717:58,227,412C/T—uncertain significance
rs100462425317:58,227,422C/G—likely benign
rs76525938717:58,227,428C/G—likely benign
rs124519937917:58,227,429G/A—uncertain significance
rs10489455917:58,227,435C/Tmissense variantpathogenic
rs140573278317:58,227,450G/A—uncertain significance
rs140220202317:58,227,453G/T—pathogenic
rs75623072717:58,227,463C/G—conflicting classifications of pathogenicity
rs208356107517:58,227,470C/G—likely benign
rs18960521117:58,227,471G/A—likely benign
rs75285139917:58,232,662C/G—likely benign
rs144376899517:58,232,669C/T—likely benign
rs208365796517:58,232,675A/C—uncertain significance
rs214526385917:58,232,687G/A—uncertain significance
rs101857214717:58,232,688C/T—likely benign
rs55659872917:58,232,690A/G—uncertain significance
rs57670101617:58,232,691C/T—likely benign
rs77640117417:58,232,692G/A—uncertain significance
rs53742998717:58,232,703C/T—likely benign
rs37684219917:58,232,706G/C—uncertain significance
rs105002495217:58,232,718C/A—pathogenic
rs14479971917:58,232,719C/T—uncertain significance
rs54896663117:58,232,721C/T—likely benign
rs146071003817:58,232,723G/T—uncertain significance
rs94386430517:58,232,727G/A—uncertain significance
rs214526410717:58,232,729G/A—likely pathogenic
rs37332081517:58,232,742G/T—likely benign
rs95759021017:58,232,745C/A—likely benign
rs214526926217:58,233,904C/T—likely benign
rs76444837917:58,233,912C/T—likely benign
rs104508665917:58,233,913C/T—likely benign
rs98005540517:58,233,919A/C—likely pathogenic
rs208368782117:58,233,923C/T—uncertain significance
rs76204094317:58,233,928C/T—likely benign
rs208368811717:58,233,934G/T—uncertain significance
rs56333520317:58,233,936G/T—conflicting classifications of pathogenicity
rs90529142317:58,233,937T/A—likely benign
rs100332167517:58,233,939G/A—uncertain significance
rs214526950217:58,233,944T/G—uncertain significance
rs57631940617:58,233,956C/A—uncertain significance
rs77746394417:58,233,957G/C—uncertain significance
rs56023331617:58,233,958C/G—likely benign
rs77841145017:58,233,970C/G—uncertain significance
rs77192999017:58,233,976C/T—likely benign
rs76921429717:58,233,977G/A—uncertain significance
rs208368950117:58,233,979C/T—likely benign
rs118322858617:58,233,980A/G—uncertain significance
rs11156187217:58,233,988G/A—benign
rs36754876117:58,233,992A/C—uncertain significance
rs208369008917:58,233,998G/A—uncertain significance
rs254451708917:58,233,999A/G—uncertain significance
rs254451712517:58,234,011G/A—uncertain significance
rs3546864317:58,234,012A/G—likely benign
rs20018043417:58,234,013C/T—uncertain significance
rs12143455217:58,234,014G/Amissense variantpathogenic
rs20202390417:58,234,017T/G—uncertain significance
rs88605318517:58,234,018C/A—uncertain significance
rs254451720617:58,234,022T/C—uncertain significance
rs14616053917:58,234,033C/T—benign
rs75300558017:58,234,034G/A—uncertain significance
rs53190933017:58,234,043C/A—likely benign
rs77849316117:58,234,047C/T—uncertain significance
rs74540827917:58,234,048G/A—likely benign
rs77991194017:58,234,062A/C—uncertain significance
rs18547607317:58,234,066C/T—conflicting classifications of pathogenicity
rs77696181617:58,234,067G/A—uncertain significance
rs254451743417:58,234,071A/T—uncertain significance
rs156773015117:58,234,077G/A—likely pathogenic
rs97691727517:58,234,080G/A—uncertain significance
rs146805962617:58,234,083T/A—likely benign
rs77346266317:58,234,086A/T—likely benign
rs76300186717:58,234,087T/C—likely benign
rs76647945517:58,234,093C/A—likely benign
rs254451972817:58,234,800T/A—uncertain significance
rs254451974217:58,234,804G/A—likely benign
rs74953289217:58,234,807C/T—uncertain significance
rs254451976817:58,234,811G/A—uncertain significance
rs122236858617:58,234,821C/T—uncertain significance
rs254451982417:58,234,824G/C—uncertain significance
rs214527345617:58,234,825A/G—likely benign
rs132251783517:58,234,828A/G—likely benign
rs254451989717:58,234,838G/A—conflicting classifications of pathogenicity
rs77451690417:58,234,839C/T—uncertain significance
rs101789511717:58,234,850G/T—uncertain significance
rs86881022217:58,234,852C/T—likely benign
rs134111946017:58,234,854A/G—uncertain significance
rs20191587517:58,234,860T/C—likely benign
rs208370953117:58,234,869A/G—uncertain significance
rs75808243717:58,234,872G/T—uncertain significance
rs76589805917:58,234,876C/T—likely benign
rs37384452917:58,234,877G/A—uncertain significance
rs135673983317:58,234,885A/G—likely benign

Showing 100 of 265 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.