RASGRP1

RAS guanyl releasing protein 1

Summary

This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]

Known Variants342 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76932037515:38,782,755C/T—likely benign
rs254283843015:38,782,767A/G—likely benign
rs75924126815:38,782,768C/T—uncertain significance
rs86841029415:38,782,781G/A—uncertain significance
rs119616729915:38,782,792T/C—uncertain significance
rs37292356115:38,782,800T/C—likely benign
rs37542652915:38,782,809C/G—uncertain significance
rs214106978215:38,782,813A/T—uncertain significance
rs75704522415:38,782,815G/A—likely benign
rs75061628715:38,782,822A/G—uncertain significance
rs129423451415:38,782,854T/C—likely benign
rs129983540615:38,782,868C/A—uncertain significance
rs74545957415:38,782,880T/A—uncertain significance
rs254283883815:38,782,889C/T—uncertain significance
rs214106992015:38,782,895G/C—likely benign
rs37196423915:38,782,901G/A—likely benign
rs76355230115:38,782,902G/A—likely benign
rs254284704215:38,786,594C/T—uncertain significance
rs131736606415:38,786,598G/A—likely benign
rs129368986515:38,786,604A/G—likely benign
rs254284707215:38,786,613G/C—likely benign
rs20158526915:38,786,620C/T—uncertain significance
rs214107634415:38,786,621G/A—uncertain significance
rs75958838215:38,786,622G/A—likely benign
rs94699067915:38,786,633T/C—uncertain significance
rs254284719115:38,786,651C/T—uncertain significance
rs214107640915:38,786,662C/T—pathogenic
rs75438416315:38,786,667G/C—likely benign
rs104516352115:38,786,678G/T—likely benign
rs118872168715:38,786,679C/A—uncertain significance
rs37189401315:38,786,694T/C—likely benign
rs254284738115:38,786,708G/T—uncertain significance
rs254284744015:38,786,721G/A—likely benign
rs125971592915:38,786,737G/A—uncertain significance
rs143608365515:38,786,745G/T—likely benign
rs254284763215:38,786,766C/T—likely benign
rs159581664315:38,786,770A/G—uncertain significance
rs76300122815:38,786,773A/G—uncertain significance
rs54010058015:38,786,781T/C—likely benign
rs76765762315:38,786,794C/T—likely benign
rs57636770215:38,786,800A/G—likely benign
rs159581673115:38,786,801T/C—uncertain significance
rs254284785115:38,786,841A/G—likely benign
rs254284785715:38,786,844C/T—likely benign
rs254284786915:38,786,849T/C—uncertain significance
rs214107683415:38,786,851A/C—uncertain significance
rs14430328915:38,786,854C/T—uncertain significance
rs20107657515:38,786,861A/C—uncertain significance
rs77744305115:38,786,879C/T—uncertain significance
rs137075332815:38,786,886C/G—likely benign
rs214107692015:38,786,889C/T—uncertain significance
rs75923241015:38,786,900G/C—uncertain significance
rs254284808915:38,786,908C/T—uncertain significance
rs214107697315:38,786,912C/T—uncertain significance
rs132002189115:38,786,918C/G—uncertain significance
rs214107698915:38,786,919A/G—likely benign
rs14783318915:38,786,921G/A—uncertain significance
rs214107703215:38,786,931C/T—likely benign
rs100701465515:38,786,945A/G—uncertain significance
rs76225692815:38,786,954G/A—uncertain significance
rs189073335815:38,786,973A/G—likely benign
rs75097653415:38,786,982C/G—likely benign
rs446703215:38,790,885C/T—benign
rs254285689615:38,791,003A/G—uncertain significance
rs131614060715:38,791,005A/G—likely benign
rs76658959015:38,791,019A/G—likely benign
rs20176888315:38,791,023G/A—likely benign
rs254285699715:38,791,029G/A—likely benign
rs75358617415:38,791,037C/T—uncertain significance
rs189090128415:38,791,051G/A—uncertain significance
rs254285708915:38,791,053G/T—uncertain significance
rs75839142915:38,791,088G/A—pathogenic
rs145023568015:38,791,102A/T—uncertain significance
rs254285729015:38,791,141C/T—uncertain significance
rs37422783615:38,791,143G/T—pathogenic
rs254285734215:38,791,155C/G—likely benign
rs140986117115:38,791,158G/A—likely benign
rs165441566915:38,791,160C/A—likely benign
rs139493316615:38,791,162T/G—likely benign
rs393612215:38,791,283C/T—benign
rs37089391315:38,792,287A/G—likely benign
rs77914904715:38,792,290A/G—likely benign
rs140964433715:38,792,293T/A—likely benign
rs254286073815:38,792,303C/G—likely pathogenic
rs254286074615:38,792,311T/C—likely benign
rs127932428615:38,792,312C/T—uncertain significance
rs104985708915:38,792,315T/C—uncertain significance
rs254286085015:38,792,350A/G—likely benign
rs104377140315:38,792,354G/A—likely benign
rs144127356215:38,792,360A/G—likely benign
rs5625481515:38,792,430A/G—benign
rs254286386015:38,793,324G/A—likely benign
rs254286387115:38,793,328C/T—likely benign
rs37185253615:38,793,368A/G—likely benign
rs92969972715:38,793,386G/A—likely benign
rs75859156215:38,793,394G/A—pathogenic
rs37526123715:38,793,395G/A—likely benign
rs214108965915:38,793,398G/T—uncertain significance
rs36806071215:38,793,400T/C—uncertain significance
rs131990925515:38,793,428A/G—likely benign

Showing 100 of 342 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.