NHERF1

NHERF family PDZ scaffold protein 1

Summary

This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]

Known Variants127 total

rsidPosition (GRCh37)AllelesClassClinVar
rs238495217:72,744,512T/C—benign
rs238495317:72,744,583A/C—benign
rs208431317:72,744,612G/A—likely benign
rs74566617:72,744,798G/C—benign
rs55180375317:72,744,870C/T—likely benign
rs11739317417:72,744,911G/A—likely benign
rs14740506717:72,744,943C/A—likely benign
rs132485059317:72,744,990G/A—uncertain significance
rs76981624617:72,744,993C/T—uncertain significance
rs77564448317:72,745,011C/A—uncertain significance
rs38790753817:72,745,018G/T—uncertain significance
rs116386838917:72,745,029G/T—uncertain significance
rs123186560917:72,745,053G/T—uncertain significance
rs121613417317:72,745,056A/G—uncertain significance
rs75796657917:72,745,066C/G—uncertain significance
rs76589780517:72,745,070C/A—conflicting classifications of pathogenicity
rs75121720417:72,745,074G/A—uncertain significance
rs78001055617:72,745,087G/C—uncertain significance
rs250989030117:72,745,092G/A—uncertain significance
rs250989032717:72,745,105G/T—likely benign
rs36895550717:72,745,107T/A—uncertain significance
rs3573827117:72,745,115C/G—conflicting classifications of pathogenicity
rs37656895917:72,745,117C/T—likely benign
rs77699019317:72,745,122C/T—uncertain significance
rs117360704517:72,745,135G/A—likely benign
rs57790150117:72,745,139G/A—uncertain significance
rs98188295917:72,745,150G/C—likely benign
rs13962218917:72,745,188A/C—conflicting classifications of pathogenicity
rs74705018917:72,745,195G/A—likely benign
rs20187413117:72,745,227C/T—uncertain significance
rs76340084917:72,745,233T/G—uncertain significance
rs78135088717:72,745,237C/T—likely benign
rs250989059817:72,745,240C/T—likely benign
rs95909547417:72,745,245G/T—uncertain significance
rs250989061817:72,745,246C/T—likely benign
rs37656236517:72,745,252G/A—benign
rs76402330717:72,745,271G/A—uncertain significance
rs75365040817:72,745,292G/T—uncertain significance
rs135797906317:72,745,304C/G—uncertain significance
rs53792493817:72,745,310G/T—uncertain significance
rs55616517117:72,745,311A/T—likely benign
rs56512087217:72,745,315G/C—likely benign
rs100757314017:72,745,322G/C—uncertain significance
rs78122550717:72,745,344C/T—uncertain significance
rs125599318117:72,745,351G/C—likely benign
rs137475747417:72,745,376G/C—uncertain significance
rs145412919217:72,745,391G/T—uncertain significance
rs138750491717:72,745,405C/G—likely benign
rs138125938317:72,745,410A/G—uncertain significance
rs100333466417:72,745,411G/C—uncertain significance
rs806742617:72,745,417C/T—likely benign
rs18659978117:72,745,433G/A—benign
rs116606342317:72,745,434G/A—likely benign
rs989902917:72,745,440A/G—benign
rs75272534917:72,758,154G/A—conflicting classifications of pathogenicity
rs77912711617:72,758,166C/T—uncertain significance
rs77266948517:72,758,172T/C—uncertain significance
rs77516624717:72,758,175A/G—uncertain significance
rs96776864117:72,758,178A/C—uncertain significance
rs147064981417:72,758,200A/T—uncertain significance
rs230521617:72,758,210T/C—benign
rs37324334017:72,758,211C/A—uncertain significance
rs14916180817:72,758,227C/T—conflicting classifications of pathogenicity
rs75277878417:72,758,230A/G—uncertain significance
rs20060931817:72,758,247C/T—likely benign
rs14683215017:72,758,248G/T—uncertain significance
rs20092641917:72,758,264C/A—likely benign
rs77597119717:72,758,269C/T—uncertain significance
rs37235931617:72,758,270G/C—likely benign
rs77433113617:72,758,290G/A—uncertain significance
rs95647274417:72,758,296A/T—uncertain significance
rs75082655117:72,758,316A/G—uncertain significance
rs250954328617:72,758,329T/G—likely benign
rs20004508817:72,759,500C/T—likely benign
rs94391468917:72,759,511C/T—likely benign
rs250954438017:72,759,513G/T—uncertain significance
rs4128206717:72,759,529G/A—likely benign
rs14710423517:72,759,559C/G—uncertain significance
rs75661473317:72,759,561G/A—uncertain significance
rs75691977617:72,759,569G/A—uncertain significance
rs3583327017:72,759,574C/T—likely benign
rs77112963017:72,759,595G/A—likely benign
rs38790753617:72,759,610C/G—uncertain significance
rs36932787517:72,759,611G/A—uncertain significance
rs250954459817:72,759,620A/C—uncertain significance
rs37306137917:72,759,624A/G—uncertain significance
rs203497344817:72,759,636T/G—uncertain significance
rs95660739717:72,759,646G/A—likely benign
rs137598269917:72,759,672G/A—uncertain significance
rs37223344417:72,759,677A/G—likely benign
rs3503285417:72,762,753A/G—benign
rs7285170817:72,762,883C/T—benign
rs478884917:72,762,901A/T—benign
rs250954632017:72,763,061T/G—likely benign
rs76475372917:72,763,072T/C—conflicting classifications of pathogenicity
rs146203465117:72,763,108T/C—uncertain significance
rs75434517:72,764,109A/G—benign
rs78145351317:72,764,291C/T—likely benign
rs75566522517:72,764,292A/G—uncertain significance
rs15050732817:72,764,295C/T—uncertain significance

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.