SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1
Gene ID: 6654, updated on 11-Apr-2024Gene type: protein coding
Also known as: GF1; HGF; NS4; GGF1; GINGF; SOS-1
- See all available tests in GTR for this gene
- Go to complete Gene record for SOS1
- Go to Variation Viewer for SOS1 variants
Summary
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Fibromatosis, gingival, 1 | See labs |
| Noonan syndrome 4 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2012-03-30) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 2p22.1
- Sequence:
- Chromosome: 2; NC_000002.12 (38981549..39124868, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SOS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NSEuroNet database - SOS1
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SOS1 database
- Variation ViewerRelated Variants
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