PPP2R1B
protein phosphatase 2 scaffold subunit Abeta
Summary
This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6589245 | 11:111,561,406 | A/T | — | — |
| rs12363179 | 11:111,568,091 | G/A | regulatory region variant | — |
| rs4936662 | 11:111,587,901 | G/T | intron variant | — |
| rs756932481 | 11:111,597,682 | T/C | — | likely benign |
| rs145742091 | 11:111,597,693 | T/A | — | likely benign |
| rs752055621 | 11:111,597,762 | C/T | — | likely benign |
| rs759984147 | 11:111,597,763 | G/A | — | uncertain significance |
| rs189287031 | 11:111,607,909 | G/A | intron variant | — |
| rs61756429 | 11:111,608,216 | T/A | — | likely benign |
| rs45568137 | 11:111,608,258 | C/G | — | benign |
| rs115287852 | 11:111,612,783 | T/C | — | likely benign |
| rs780104936 | 11:111,612,792 | G/C | — | uncertain significance |
| rs200059018 | 11:111,613,239 | A/C | — | likely benign |
| rs370790645 | 11:111,613,313 | T/C | — | uncertain significance |
| rs910402169 | 11:111,613,352 | T/A | — | uncertain significance |
| rs1944564179 | 11:111,613,367 | T/A | — | uncertain significance |
| rs758785850 | 11:111,614,107 | C/T | — | uncertain significance |
| rs369086086 | 11:111,614,147 | T/C | — | uncertain significance |
| rs116224725 | 11:111,614,174 | T/C | — | uncertain significance |
| rs372393361 | 11:111,614,206 | T/G | — | uncertain significance |
| rs34166584 | 11:111,614,251 | T/C | — | uncertain significance |
| rs140552721 | 11:111,623,025 | T/C | — | uncertain significance |
| rs1051587502 | 11:111,623,043 | C/T | — | uncertain significance |
| rs782074487 | 11:111,623,047 | C/T | — | uncertain significance |
| rs375058193 | 11:111,624,172 | C/T | — | uncertain significance |
| rs782765845 | 11:111,624,246 | A/G | — | uncertain significance |
| rs782552027 | 11:111,624,267 | G/A | — | uncertain significance |
| rs201214975 | 11:111,625,233 | G/A | — | uncertain significance |
| rs782434436 | 11:111,625,255 | T/C | — | uncertain significance |
| rs1007573208 | 11:111,625,712 | T/C | — | uncertain significance |
| rs918386063 | 11:111,625,770 | C/G | — | uncertain significance |
| rs116572596 | 11:111,626,168 | C/A | — | uncertain significance |
| rs371282382 | 11:111,630,631 | C/T | — | uncertain significance |
| rs1788955 | 11:111,630,998 | C/A | — | — |
| rs200931226 | 11:111,631,646 | G/A | — | uncertain significance |
| rs199802856 | 11:111,631,727 | T/C | — | uncertain significance |
| rs1805076 | 11:111,635,566 | C/T | missense variant | pathogenic |
| rs61757743 | 11:111,635,619 | A/G | — | likely benign |
| rs376189346 | 11:111,636,075 | T/C | — | uncertain significance |
| rs541354746 | 11:111,636,985 | T/C | — | uncertain significance |
| rs782390389 | 11:111,637,046 | C/T | — | uncertain significance |
| rs150717048 | 11:111,637,066 | A/G | — | likely benign |
| rs1324895398 | 11:111,637,067 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.