ANXA13

annexin A13

Summary

This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Known Variants31 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5780805658:124,693,493G/Auncertain significance
rs7710296928:124,693,541T/Guncertain significance
rs7456924888:124,693,555C/Auncertain significance
rs22940158:124,696,867C/Gmissense variant
rs1442826738:124,701,138C/Tuncertain significance
rs1419015948:124,705,489A/Cuncertain significance
rs12124898668:124,705,498T/Cuncertain significance
rs1453828558:124,705,959G/Tuncertain significance
rs1501676818:124,707,783T/Auncertain significance
rs7748642258:124,707,804C/Tuncertain significance
rs3681462298:124,707,940C/Tuncertain significance
rs9086702278:124,710,630T/Guncertain significance
rs12395189768:124,710,690A/Guncertain significance
rs7654469568:124,710,721C/Tuncertain significance
rs11584645068:124,710,747G/Auncertain significance
rs1382698088:124,710,777C/Tuncertain significance
rs1429060238:124,710,784G/Auncertain significance
rs132586818:124,714,722T/Cintron variant
rs1460942298:124,714,887C/Tuncertain significance
rs7553886678:124,714,940C/Auncertain significance
rs7568440028:124,724,932G/Auncertain significance
rs78208818:124,739,709G/Aintron variant
rs1426143148:124,739,980C/Tintron variant
rs1995085198:124,748,014T/Auncertain significance
rs2021992078:124,748,017C/Guncertain significance
rs2010943548:124,748,023C/Tuncertain significance
rs13588250438:124,748,024G/Auncertain significance
rs7690618858:124,748,031G/Tuncertain significance
rs12411246458:124,748,042G/Tuncertain significance
rs3753502208:124,748,083T/Guncertain significance
rs5650312458:124,748,084G/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.