PRKCA

protein kinase C alpha

Summary

Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]

Known Variants65 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6176237217:64,298,682G/Aregulatory region variant—
rs250925608517:64,299,075G/A—uncertain significance
rs250925609317:64,299,076A/G—uncertain significance
rs990900417:64,306,133C/G——
rs721044617:64,307,014G/Aregulatory region variant—
rs432847817:64,307,982C/G——
rs5573195317:64,310,995G/T——
rs1294061017:64,312,463A/C——
rs991246817:64,318,357G/A——
rs57249846117:64,322,214T/C——
rs808183417:64,331,037C/G——
rs7284389517:64,331,156T/Gintron variant—
rs7284390217:64,343,405T/Cintron variant—
rs650441717:64,379,240T/Cintron variant—
rs1107965717:64,432,066A/Gintron variant—
rs100565117:64,438,011C/T——
rs22888317:64,443,995T/A——
rs720749917:64,447,165G/Aintron variant—
rs5829699817:64,469,881C/Tintron variant—
rs14778844917:64,472,431C/Tintron variant—
rs722495717:64,482,335A/Cintron variant—
rs722495817:64,482,337A/Gintron variant—
rs75030241517:64,492,392C/T—likely benign
rs1165170817:64,517,313T/G——
rs198011917:64,520,406G/Aintron variant—
rs5944376317:64,526,988T/Cintron variant—
rs930350917:64,530,887C/Aintron variant—
rs18197320117:64,575,809C/Tintron variant—
rs6176239617:64,637,571G/A—benign
rs250970794817:64,637,572A/G—uncertain significance
rs74843301417:64,641,505C/T—likely benign
rs76996556317:64,641,508T/C—likely benign
rs37254256517:64,641,584A/G—uncertain significance
rs7984319217:64,658,155T/Aintron variant—
rs20073261117:64,683,255A/G—uncertain significance
rs77655860917:64,683,307A/G—uncertain significance
rs75913054817:64,683,361C/T—uncertain significance
rs140875900917:64,684,532A/T—uncertain significance
rs37224233217:64,684,548G/C—uncertain significance
rs74551113317:64,685,070T/C—uncertain significance
rs222785717:64,685,078G/A—benign
rs15052243817:64,685,084C/T—benign
rs74873216217:64,685,109G/A—uncertain significance
rs3582113017:64,728,856C/T—benign
rs53821718717:64,728,865A/G—likely benign
rs5628640517:64,734,914C/T—likely benign
rs650445317:64,736,230C/Tintron variant—
rs91683754817:64,737,827G/C—uncertain significance
rs214423713317:64,738,756A/G—uncertain significance
rs20059568417:64,738,758C/T—likely benign
rs3440684217:64,738,819A/G—likely benign
rs990752117:64,746,057A/Gintron variant—
rs56394645517:64,770,156G/A—uncertain significance
rs479090417:64,779,154T/Cregulatory region variant—
rs388923717:64,779,430G/Tregulatory region variant—
rs807363317:64,782,977C/T—likely benign
rs75856158217:64,783,050T/C—likely benign
rs76612905417:64,783,100G/A—benign
rs222894517:64,785,022G/A—benign
rs1696022817:64,788,827G/Aintron variant—
rs807499517:64,792,131G/Aintron variant—
rs14563949917:64,800,041C/G—likely benign
rs14137604217:64,800,042G/A—likely benign
rs37019454917:64,800,107G/A—benign
rs734284717:64,802,544C/G——

Gene information from NCBI Gene. Variant classifications from ClinVar.