PHACTR3

phosphatase and actin regulator 3

Summary

This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Known Variants44 total

rsidPosition (GRCh37)AllelesClassClinVar
rs86591263320:58,152,579G/Tuncertain significance
rs96156211120:58,152,582G/Tuncertain significance
rs52936454020:58,152,634C/Tuncertain significance
rs7313889620:58,161,562T/Aintron variant
rs101449031620:58,167,065A/G
rs602699020:58,177,615T/Aupstream gene variant
rs97999850820:58,180,080C/Guncertain significance
rs251599714220:58,180,151T/Guncertain significance
rs11743119820:58,219,763C/Tintron variant
rs612392420:58,219,764A/C
rs77951628520:58,322,833G/Auncertain significance
rs203942858720:58,322,846G/Auncertain significance
rs36836110820:58,330,293C/Tuncertain significance
rs37130098620:58,330,353G/Cuncertain significance
rs76908594720:58,342,249C/Auncertain significance
rs76211764120:58,342,265G/Auncertain significance
rs75612156420:58,342,304A/Guncertain significance
rs251666869220:58,342,345A/Guncertain significance
rs20111856320:58,342,389C/Auncertain significance
rs13979938920:58,342,409C/Tuncertain significance
rs93464694120:58,348,348T/Cuncertain significance
rs76614654620:58,348,354G/Auncertain significance
rs74715458420:58,348,391G/Auncertain significance
rs19994794020:58,348,403C/Tuncertain significance
rs103916596120:58,348,418C/Tuncertain significance
rs137419454820:58,348,439G/Auncertain significance
rs37337148620:58,348,447C/Guncertain significance
rs77087281720:58,348,456C/Auncertain significance
rs251670644320:58,349,332A/Cuncertain significance
rs20135722220:58,349,354C/Tuncertain significance
rs14888116720:58,349,368G/Alikely benign
rs18979495820:58,349,500C/Auncertain significance
rs14572452620:58,349,530G/Auncertain significance
rs117016990920:58,349,536A/Guncertain significance
rs118251220:58,363,678T/G
rs37516395820:58,381,176C/Tuncertain significance
rs204156218420:58,381,202T/Guncertain significance
rs118253120:58,393,002G/Tintron variant
rs118253220:58,393,545C/Aintron variant
rs13896429220:58,411,562G/Auncertain significance
rs37418833820:58,415,439C/Tuncertain significance
rs205903683220:58,415,442A/Guncertain significance
rs139670924920:58,415,454G/Auncertain significance
rs136717971120:58,416,502G/Auncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.