SOS1 (GeneID: 6654) | Homo sapiens
Description: SOS Ras/Rac guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:11187]
Synonyms: HGF, GF1, GINGF, NS4, GGF1
Other ID(s): HGNC:11187, ENSG00000115904
Protein Accession Numbers: NP_001369324, ENST00000428721, ENST00000402219, NP_001369323, ENST00000426016.1, ENST00000395038, NP_005624, ENST00000451331, ENST00000426016
Statistics: ClinVar(488) gnomAD(1622) COSMIC(1094) PTM(54)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000395038 ENST00000402219 You are here now! ENST00000426016 You are here now! ENST00000428721 ENST00000451331 NP_001369323 NP_001369324 NP_005624 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00125 Histone Core histone H2A/H2B/H3/H4 40-169 CL0012 Histone Homo sapiens
PF00169 PH PH domain 428-546 CL0266 PH Homo sapiens
PF00617 RasGEF RasGEF domain 783-962 Homo sapiens
PF00618 RasGEF_N RasGEF N-terminal motif 600-717 CL0542 RAS_GEF_N Homo sapiens
PF00621 RhoGEF RhoGEF domain 211-388 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Hypertrophic Cardiomyopathy Cardiovascular Diseases ; 0.536 0.655
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.536 0.655
Hydrops Fetalis Female Urogenital Diseases and Pregnancy Complications ; Hemic and Lymphatic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Immune System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.536 0.655
Noonan Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.536 0.655
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.536 0.655
Turner Syndrome, Male Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.536 0.655
Adenocarcinoma of lung (disorder) Neoplasms ; Respiratory Tract Diseases ; 0.536 0.655
Hereditary gingival fibromatosis Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.536 0.655
Female Pseudo-Turner Syndrome Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.536 0.655
Noonan Syndrome 4 Musculoskeletal Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.536 0.655
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.536 0.655
NO RESULT FOUND
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