PPFIA2
PPFI scaffold protein A2
Summary
The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2541220471 | 12:81,657,048 | G/T | — | uncertain significance |
| rs368764392 | 12:81,657,159 | T/C | — | uncertain significance |
| rs548180715 | 12:81,660,772 | T/C | — | uncertain significance |
| rs2037812164 | 12:81,661,705 | T/C | — | uncertain significance |
| rs56241008 | 12:81,661,822 | C/T | — | benign |
| rs373894876 | 12:81,671,124 | T/G | — | uncertain significance |
| rs7971813 | 12:81,698,750 | A/C | — | — |
| rs1921045 | 12:81,714,932 | A/G | intron variant | — |
| rs368047640 | 12:81,719,594 | G/A | — | likely benign |
| rs763280326 | 12:81,719,598 | T/C | — | uncertain significance |
| rs745328136 | 12:81,719,635 | T/C | — | uncertain significance |
| rs377180392 | 12:81,732,973 | C/T | — | uncertain significance |
| rs2544484344 | 12:81,733,073 | C/G | — | uncertain significance |
| rs189032969 | 12:81,734,869 | T/C | — | uncertain significance |
| rs938291924 | 12:81,734,983 | G/T | — | uncertain significance |
| rs371890865 | 12:81,741,327 | C/T | — | uncertain significance |
| rs369038632 | 12:81,741,332 | G/A | — | uncertain significance |
| rs747014544 | 12:81,741,379 | T/C | — | uncertain significance |
| rs372879855 | 12:81,741,388 | G/A | — | uncertain significance |
| rs34187367 | 12:81,741,462 | A/G | — | benign |
| rs753367719 | 12:81,746,949 | G/A | — | uncertain significance |
| rs368909977 | 12:81,747,003 | G/A | — | uncertain significance |
| rs372361512 | 12:81,747,011 | G/T | — | uncertain significance |
| rs894567313 | 12:81,747,055 | G/C | — | uncertain significance |
| rs2060334832 | 12:81,747,084 | G/A | — | uncertain significance |
| rs1436996268 | 12:81,747,090 | T/G | — | uncertain significance |
| rs769750338 | 12:81,751,914 | C/T | — | uncertain significance |
| rs201236206 | 12:81,751,967 | C/T | — | uncertain significance |
| rs529851676 | 12:81,756,536 | G/C | — | uncertain significance |
| rs1223802406 | 12:81,756,547 | T/C | — | uncertain significance |
| rs767601610 | 12:81,762,612 | A/G | — | likely benign |
| rs377428808 | 12:81,762,942 | C/T | — | uncertain significance |
| rs181619998 | 12:81,777,853 | A/T | — | uncertain significance |
| rs568029196 | 12:81,777,857 | T/C | — | likely benign |
| rs2549300958 | 12:81,777,876 | C/T | — | uncertain significance |
| rs762301756 | 12:81,777,896 | C/T | — | uncertain significance |
| rs2038417987 | 12:81,778,005 | T/C | — | uncertain significance |
| rs4842390 | 12:81,778,022 | C/T | — | uncertain significance |
| rs1009990234 | 12:81,799,585 | C/A | — | uncertain significance |
| rs529050746 | 12:81,799,621 | G/A | — | uncertain significance |
| rs1263390092 | 12:81,799,625 | C/T | — | uncertain significance |
| rs755834180 | 12:81,839,440 | C/T | — | likely benign |
| rs12426725 | 12:81,843,128 | G/A | intron variant | — |
| rs529003548 | 12:81,868,060 | C/G | — | — |
| rs2551542683 | 12:82,070,595 | G/A | — | uncertain significance |
| rs200925492 | 12:82,070,607 | G/C | — | uncertain significance |
| rs1040334825 | 12:82,070,617 | C/T | — | uncertain significance |
| rs540951444 | 12:82,070,622 | T/C | — | uncertain significance |
| rs34503239 | 12:82,124,199 | G/T | intron variant | — |
| rs2551777613 | 12:82,147,786 | G/A | — | uncertain significance |
| rs370073719 | 12:82,147,858 | G/C | — | uncertain significance |
| rs775868568 | 12:82,147,871 | G/A | — | uncertain significance |
| rs1241245195 | 12:82,147,946 | C/G | — | uncertain significance |
| rs768985652 | 12:82,147,961 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.