NHERF2
NHERF family PDZ scaffold protein 2
Summary
This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2083890243 | 16:2,077,044 | G/T | — | uncertain significance |
| rs1185404837 | 16:2,077,060 | G/T | — | uncertain significance |
| rs979851726 | 16:2,077,089 | A/G | — | uncertain significance |
| rs73496087 | 16:2,077,090 | G/C | — | benign |
| rs998101435 | 16:2,077,206 | A/G | — | uncertain significance |
| rs553507988 | 16:2,079,619 | C/T | — | uncertain significance |
| rs771855196 | 16:2,079,620 | G/A | — | uncertain significance |
| rs387907539 | 16:2,079,621 | G/A | — | uncertain significance |
| rs370860382 | 16:2,079,682 | G/A | — | uncertain significance |
| rs754722358 | 16:2,079,698 | G/A | — | uncertain significance |
| rs373924925 | 16:2,079,712 | G/C | — | uncertain significance |
| rs369097244 | 16:2,079,726 | G/C | — | uncertain significance |
| rs774643224 | 16:2,079,731 | C/T | — | uncertain significance |
| rs774149996 | 16:2,086,331 | A/G | — | uncertain significance |
| rs369991176 | 16:2,086,374 | G/A | — | uncertain significance |
| rs387907540 | 16:2,086,396 | G/A | — | uncertain significance |
| rs139491786 | 16:2,086,421 | C/T | — | likely benign |
| rs555526303 | 16:2,086,422 | G/C | — | uncertain significance |
| rs1260236209 | 16:2,086,438 | C/G | — | uncertain significance |
| rs760492388 | 16:2,086,440 | G/A | — | uncertain significance |
| rs374997543 | 16:2,086,452 | C/T | — | likely benign |
| rs367680143 | 16:2,086,466 | G/A | — | uncertain significance |
| rs62038800 | 16:2,086,469 | C/T | — | likely benign |
| rs200865634 | 16:2,086,481 | C/G | — | uncertain significance |
| rs200328877 | 16:2,086,484 | G/A | — | uncertain significance |
| rs371625359 | 16:2,086,493 | C/T | — | uncertain significance |
| rs773908897 | 16:2,086,494 | G/A | — | uncertain significance |
| rs764323283 | 16:2,086,751 | G/C | — | uncertain significance |
| rs767422892 | 16:2,086,756 | C/T | — | uncertain significance |
| rs376982217 | 16:2,086,757 | G/A | — | uncertain significance |
| rs57986628 | 16:2,086,798 | G/A | — | benign |
| rs371739183 | 16:2,086,805 | G/A | — | uncertain significance |
| rs752462608 | 16:2,086,846 | C/T | — | uncertain significance |
| rs41292275 | 16:2,086,847 | G/A | — | uncertain significance |
| rs200374798 | 16:2,086,852 | C/T | — | uncertain significance |
| rs558590446 | 16:2,086,853 | G/A | — | uncertain significance |
| rs368358326 | 16:2,086,867 | G/A | — | uncertain significance |
| rs536133818 | 16:2,086,965 | C/T | — | uncertain significance |
| rs751932265 | 16:2,087,548 | G/A | — | uncertain significance |
| rs878958184 | 16:2,087,561 | C/T | — | uncertain significance |
| rs763419418 | 16:2,087,585 | C/T | — | uncertain significance |
| rs369206224 | 16:2,087,587 | G/T | — | uncertain significance |
| rs377126399 | 16:2,087,885 | C/T | — | uncertain significance |
| rs201338478 | 16:2,087,888 | C/T | — | uncertain significance |
| rs371903014 | 16:2,087,893 | G/A | — | uncertain significance |
| rs751467797 | 16:2,087,921 | G/A | — | uncertain significance |
| rs750159454 | 16:2,087,963 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.