PPFIBP2
PPFIB scaffold protein 2
Summary
This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs757843520 | 11:7,586,793 | C/T | — | uncertain significance |
| rs200278198 | 11:7,586,798 | G/A | — | uncertain significance |
| rs143207591 | 11:7,586,841 | C/T | — | uncertain significance |
| rs368767744 | 11:7,586,859 | C/G | — | uncertain significance |
| rs201893667 | 11:7,586,870 | C/T | — | uncertain significance |
| rs775801705 | 11:7,586,901 | T/C | — | uncertain significance |
| rs199516445 | 11:7,586,915 | C/T | — | uncertain significance |
| rs767070402 | 11:7,586,931 | C/T | — | uncertain significance |
| rs758341225 | 11:7,586,951 | C/A | — | uncertain significance |
| rs1316065489 | 11:7,586,972 | A/G | — | uncertain significance |
| rs144052877 | 11:7,586,978 | G/A | — | uncertain significance |
| rs199781245 | 11:7,586,990 | G/A | — | uncertain significance |
| rs6578884 | 11:7,599,504 | C/T | — | — |
| rs773087319 | 11:7,614,412 | G/A | — | uncertain significance |
| rs148982716 | 11:7,614,430 | G/A | — | uncertain significance |
| rs1590462860 | 11:7,618,818 | G/A | — | uncertain significance |
| rs142338414 | 11:7,618,837 | G/A | — | uncertain significance |
| rs779846688 | 11:7,618,846 | A/G | — | uncertain significance |
| rs918065563 | 11:7,631,615 | G/A | — | uncertain significance |
| rs560712160 | 11:7,632,626 | C/A | — | — |
| rs758432552 | 11:7,642,199 | A/G | — | uncertain significance |
| rs149522575 | 11:7,647,017 | G/A | — | uncertain significance |
| rs140620299 | 11:7,647,029 | G/A | — | likely benign |
| rs376150144 | 11:7,647,041 | C/G | — | uncertain significance |
| rs148281709 | 11:7,647,047 | G/C | — | uncertain significance |
| rs144468110 | 11:7,647,063 | G/A | — | uncertain significance |
| rs1260453830 | 11:7,647,074 | C/G | — | uncertain significance |
| rs146173892 | 11:7,647,077 | C/T | — | uncertain significance |
| rs376341543 | 11:7,647,092 | G/C | — | uncertain significance |
| rs147849861 | 11:7,647,098 | C/T | — | likely benign |
| rs1409077325 | 11:7,647,099 | A/G | — | uncertain significance |
| rs111709242 | 11:7,649,531 | G/A | — | benign |
| rs2494011871 | 11:7,649,533 | C/G | — | uncertain significance |
| rs774965383 | 11:7,650,694 | G/A | — | uncertain significance |
| rs2494041666 | 11:7,650,721 | T/C | — | uncertain significance |
| rs2494043200 | 11:7,650,755 | G/A | — | uncertain significance |
| rs2494043456 | 11:7,650,759 | A/G | — | uncertain significance |
| rs201945661 | 11:7,652,162 | C/T | — | uncertain significance |
| rs200515190 | 11:7,652,195 | C/T | — | likely benign |
| rs767613446 | 11:7,652,232 | G/C | — | uncertain significance |
| rs760617929 | 11:7,652,239 | G/A | — | uncertain significance |
| rs192865481 | 11:7,653,762 | C/T | intron variant | — |
| rs2494120048 | 11:7,654,143 | C/T | — | uncertain significance |
| rs150147708 | 11:7,655,763 | A/G | — | uncertain significance |
| rs75107167 | 11:7,656,192 | T/C | intron variant | — |
| rs141812869 | 11:7,656,808 | C/T | — | uncertain significance |
| rs372207377 | 11:7,660,969 | C/G | — | uncertain significance |
| rs369225693 | 11:7,660,979 | C/G | — | uncertain significance |
| rs199754372 | 11:7,661,024 | C/T | — | uncertain significance |
| rs185387374 | 11:7,661,026 | C/T | — | uncertain significance |
| rs778277797 | 11:7,661,062 | T/G | — | uncertain significance |
| rs141935386 | 11:7,662,749 | A/G | — | uncertain significance |
| rs760588870 | 11:7,662,791 | A/G | — | uncertain significance |
| rs1299870377 | 11:7,662,796 | C/T | — | uncertain significance |
| rs145235342 | 11:7,669,718 | G/C | — | uncertain significance |
| rs750628832 | 11:7,669,742 | A/T | — | uncertain significance |
| rs1853468244 | 11:7,669,743 | C/T | — | uncertain significance |
| rs1239107428 | 11:7,669,752 | C/T | — | uncertain significance |
| rs201968764 | 11:7,669,758 | A/G | — | uncertain significance |
| rs776588114 | 11:7,670,071 | T/C | — | uncertain significance |
| rs756564090 | 11:7,670,112 | T/G | — | uncertain significance |
| rs2494481078 | 11:7,670,408 | A/G | — | uncertain significance |
| rs755762114 | 11:7,670,461 | A/T | — | uncertain significance |
| rs201386375 | 11:7,670,851 | A/T | — | uncertain significance |
| rs12293804 | 11:7,670,891 | A/G | — | benign |
| rs200482477 | 11:7,672,093 | T/C | — | uncertain significance |
| rs762385926 | 11:7,672,096 | T/C | — | uncertain significance |
| rs1029172681 | 11:7,672,105 | C/G | — | uncertain significance |
| rs775981971 | 11:7,672,168 | G/A | — | uncertain significance |
| rs143255201 | 11:7,672,893 | G/C | — | uncertain significance |
| rs148592768 | 11:7,672,942 | C/A | — | likely benign |
| rs142986100 | 11:7,672,948 | A/G | — | uncertain significance |
| rs151026896 | 11:7,672,963 | G/A | — | uncertain significance |
| rs756491171 | 11:7,673,020 | G/A | — | uncertain significance |
| rs769684413 | 11:7,673,073 | C/T | — | uncertain significance |
| rs145494599 | 11:7,673,074 | G/A | — | uncertain significance |
| rs143193820 | 11:7,674,384 | C/T | — | uncertain significance |
| rs201672959 | 11:7,674,385 | G/A | — | uncertain significance |
| rs148183299 | 11:7,674,434 | G/A | — | likely benign |
| rs201206315 | 11:7,683,823 | G/C | — | — |
| rs12796110 | 11:7,687,669 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.