Details for Gene SOS1

GENE NAME SOS1
CHROMOSOME 2
ENSEMBL ID None
ENTREZ ID ENSG00000115904
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['GTPase activator activity', 'guanyl-nucleotide exchange factor activity', 'DNA binding', 'protein heterodimerization activity', 'protein binding', 'SH3 domain binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01521; hsa01522; hsa04010; hsa04012; hsa04014; hsa04062; hsa04068; hsa04072; hsa04150; hsa04151; hsa04510; hsa04540; hsa04630; hsa04650; hsa04660; hsa04662; hsa04664; hsa04714; hsa04722; hsa04810; hsa04910; hsa04912; hsa04915; hsa04917; hsa04926; hsa04935; hsa05034; hsa05160; hsa05161; hsa05163; hsa05165; hsa05200; hsa05205; hsa05206; hsa05210; hsa05211; hsa05213; hsa05214; hsa05215; hsa05220; hsa05221; hsa05223; hsa05224; hsa05225; hsa05226; hsa05231; R-HSA-109582; R-HSA-112399; R-HSA-112412; R-HSA-1226099; R-HSA-1227986; R-HSA-1227990; R-HSA-1236382; R-HSA-1236394; R-HSA-1250196; R-HSA-1250347; R-HSA-1266738; R-HSA-1280215; R-HSA-1280218; R-HSA-1433557; R-HSA-1433559; R-HSA-162582; R-HSA-1643685; R-HSA-1643713; R-HSA-166520; R-HSA-167044; R-HSA-168249; R-HSA-168256; R-HSA-177929; R-HSA-179812; R-HSA-180336; R-HSA-186763; R-HSA-186797; R-HSA-187037; R-HSA-187687; R-HSA-190236; R-HSA-193648; R-HSA-193704; R-HSA-194315; R-HSA-194840; R-HSA-1963640; R-HSA-202733; R-HSA-204998; R-HSA-210993; R-HSA-2172127; R-HSA-2179392; R-HSA-2404192; R-HSA-2424491; R-HSA-2428924; R-HSA-2428928; R-HSA-2428933; R-HSA-2454202; R-HSA-2730905; R-HSA-2871796; R-HSA-2871809; R-HSA-354192; R-HSA-354194; R-HSA-372790; R-HSA-375165; R-HSA-376176; R-HSA-388396; R-HSA-416476; R-HSA-416482; R-HSA-422475; R-HSA-428540; R-HSA-449147; R-HSA-451927; R-HSA-512988; R-HSA-5637810; R-HSA-5637812; R-HSA-5637815; R-HSA-5654687; R-HSA-5654688; R-HSA-5654693; R-HSA-5654696; R-HSA-5654699; R-HSA-5654700; R-HSA-5654704; R-HSA-5654706; R-HSA-5654708; R-HSA-5654712; R-HSA-5654716; R-HSA-5654719; R-HSA-5654736; R-HSA-5654738; R-HSA-5654741; R-HSA-5654743; R-HSA-5655253; R-HSA-5655291; R-HSA-5655302; R-HSA-5655332; R-HSA-5663202; R-HSA-5673001; R-HSA-5683057; R-HSA-5684996; R-HSA-6806834; R-HSA-73887; R-HSA-74749; R-HSA-74751; R-HSA-74752; R-HSA-76002; R-HSA-76009; R-HSA-881907; R-HSA-8851805; R-HSA-8853334; R-HSA-8853338; R-HSA-8853659; R-HSA-8983432; R-HSA-9006115; R-HSA-9006335; R-HSA-9006934; R-HSA-9026519; R-HSA-9027284; R-HSA-9028731; R-HSA-9034015; R-HSA-9034864; R-HSA-912526; R-HSA-9607240; R-HSA-9634285; R-HSA-9664565; R-HSA-9665348; R-HSA-9665686; R-HSA-9669938; R-HSA-9670439; R-HSA-9671555; R-HSA-9673767; R-HSA-9673770; R-HSA-9675108; R-HSA-9682385; R-HSA-9703465; R-HSA-9703648; R-HSA-983695; R-HSA-983705
2 combinations linked to SOS1 OLI1518; OLI568
2 variants linked to SOS1 SOS1:p.Pro340Ser; SOS1:c.244A>G, p.Ile82Val
3 diseases linked to SOS1 Hypertrophic cardiomyopathy; Hypertrophic cardiomyopathy; 46,XY disorder of sex development
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