RASAL2

RAS protein activator like 2

Summary

This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Known Variants86 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13862748581:178,063,640C/Tuncertain significance
rs3776968171:178,063,710C/Alikely benign
rs7700964801:178,063,717C/Tlikely benign
rs12423292051:178,063,724G/Tuncertain significance
rs3728961141:178,063,792G/Tuncertain significance
rs1448298001:178,063,812G/Cuncertain significance
rs3162741:178,142,208G/Aregulatory region variant
rs5194641:178,221,225A/Gintron variant
rs5636423811:178,252,708G/Auncertain significance
rs3686185311:178,252,722C/Tuncertain significance
rs2013331281:178,269,146A/Tuncertain significance
rs13128778851:178,269,176G/Auncertain significance
rs5746558741:178,269,223G/Auncertain significance
rs1414881301:178,269,238G/Auncertain significance
rs10381938731:178,269,241G/Alikely benign
rs3719143611:178,359,250G/Auncertain significance
rs2014524131:178,359,265G/Auncertain significance
rs16750771751:178,389,646G/Cuncertain significance
rs7721168691:178,389,680A/Guncertain significance
rs14594083051:178,389,724C/Tuncertain significance
rs7565898981:178,408,588C/Tuncertain significance
rs16764785471:178,408,612C/Guncertain significance
rs1425564971:178,410,689C/Tbenign
rs2015997661:178,410,759C/Tuncertain significance
rs7500038511:178,410,777A/Tuncertain significance
rs7511046091:178,411,823G/Auncertain significance
rs1447632401:178,411,989T/Clikely benign
rs25260836811:178,412,066T/Cuncertain significance
rs7582081631:178,412,105G/Auncertain significance
rs25260853291:178,412,144C/Tuncertain significance
rs16767738471:178,412,153A/Guncertain significance
rs351914961:178,412,181G/Alikely benign
rs7646640461:178,412,192G/Auncertain significance
rs12564275911:178,412,237T/Auncertain significance
rs7546677211:178,420,784T/Cuncertain significance
rs7775097351:178,420,792C/Guncertain significance
rs13616375271:178,420,841A/Guncertain significance
rs1419441051:178,421,678A/Guncertain significance
rs7490978551:178,421,702C/Guncertain significance
rs5334576851:178,423,632A/Guncertain significance
rs1407096061:178,423,652C/Tuncertain significance
rs14708823771:178,423,705T/Guncertain significance
rs7470689511:178,423,712T/Cuncertain significance
rs12285359141:178,423,759G/Cuncertain significance
rs7698082101:178,425,862G/Auncertain significance
rs1431723631:178,425,874G/Auncertain significance
rs7619363301:178,425,887G/Auncertain significance
rs11765231061:178,425,922C/Tuncertain significance
rs7791460981:178,425,926C/Tuncertain significance
rs7734525381:178,425,986G/Auncertain significance
rs5349546951:178,426,016T/Cuncertain significance
rs25262679231:178,426,951C/Auncertain significance
rs7535322241:178,426,964G/Auncertain significance
rs1464964661:178,426,968C/Tlikely benign
rs7583137791:178,426,969G/Alikely benign
rs5764555881:178,427,081C/Tuncertain significance
rs3772554601:178,427,116C/Tuncertain significance
rs7725175951:178,427,126C/Tuncertain significance
rs1389424961:178,427,156C/Tuncertain significance
rs12217913811:178,427,282G/Cuncertain significance
rs7527875511:178,427,369A/Guncertain significance
rs7584173431:178,427,372G/Auncertain significance
rs7782876651:178,427,376G/Cuncertain significance
rs1507291971:178,427,396C/Tuncertain significance
rs7529856431:178,427,434C/Auncertain significance
rs7816804001:178,427,501C/Tuncertain significance
rs7609953561:178,427,503C/Tuncertain significance
rs7461920231:178,427,509T/Guncertain significance
rs7663437351:178,427,515C/Tuncertain significance
rs12977277891:178,427,518C/Guncertain significance
rs7465737171:178,427,533C/Guncertain significance
rs1444125691:178,427,559G/Cbenign
rs7496993631:178,427,584G/Cuncertain significance
rs7581912371:178,435,104G/Auncertain significance
rs12094644141:178,435,107G/Auncertain significance
rs3706156751:178,435,125G/Auncertain significance
rs1444302241:178,435,209G/Auncertain significance
rs3713338011:178,435,238A/Cuncertain significance
rs1444018571:178,436,488G/Auncertain significance
rs5699906621:178,439,873C/Tregulatory region variant
rs7732858611:178,442,297C/Tuncertain significance
rs1474142251:178,442,304G/Cuncertain significance
rs3677697581:178,442,321C/Guncertain significance
rs7520528851:178,442,324A/Guncertain significance
rs12532242571:178,442,336A/Guncertain significance
rs1939210851:178,442,351G/Tuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.