0 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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119PubMed Papers
20Diseases
0Drugs
16Pathogenic Variants
FUNCTIONAL ROLEHighly Constrained
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic stress granulenuclear stress granuleprotein bindingcytoplasmRolandic epilepsyself-limited epilepsy with centrotemporal spikesmajor depressive disordergenetic disorder
AI summary not yet available. Showing NCBI Gene summary.
RNA binding fox-1 homolog 1
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Rolandic epilepsyOpen Targets
self-limited epilepsy with centrotemporal spikesOpen Targets
major depressive disorderOpen Targets
genetic disorderOpen Targets
smoking initiationOpen Targets
bipolar disorderOpen Targets
attention deficit hyperactivity disorderOpen Targets
schizophreniaOpen Targets
cervical carcinomaOpen Targets
refractive errorOpen Targets
autism spectrum disorderOpen Targets
atrial fibrillationOpen Targets
ovarian dysfunctionOpen Targets
Sjogren syndromeOpen Targets
placental retentionOpen Targets
diabetes mellitusOpen Targets
ovarian neoplasmOpen Targets
NM_018723.4(RBFOX1):c.548G>T (p.Gly183Val)Likely pathogenic
Inborn genetic diseases
★☆☆☆2024→ Residue 183
NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)Likely pathogenic
Intellectual disability
★☆☆☆2023→ Residue 397
NC_000016.10:g.(?_7029167)_(7099643_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
NC_000016.10:g.(?_6355716)_(6937802_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
NC_000016.10:g.(?_6360351)_(6582207_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
NC_000016.10:g.(?_6622570)_(6720408_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
NC_000016.10:g.(?_6759006)_(6789572_?)delLikely pathogenic
Autism
★☆☆☆2018
NC_000016.10:g.(?_6773909)_(6978067_?)delLikely pathogenic
Schizophrenia
★☆☆☆2018
NC_000016.10:g.(?_6316970)_(6317082_?)delLikely pathogenic
Undetermined early-onset epileptic encephalopathy
★☆☆☆2018
NC_000016.10:g.(?_6654578)_(6654675_?)delLikely pathogenic
Undetermined early-onset epileptic encephalopathy
★☆☆☆2018
NM_145893.3(RBFOX1):c.79C>G (p.Leu27Val)Likely pathogenic
not provided
★☆☆☆2016→ Residue 27
GRCh38/hg38 16p13.3(chr16:6735606-6996218)x1Pathogenic
See cases
★☆☆☆2011
GRCh38/hg38 16p13.3(chr16:6245158-6327302)x1Pathogenic
See cases
★☆☆☆2011
GRCh38/hg38 16p13.3(chr16:6305477-6373270)x1Pathogenic
See cases
★☆☆☆2011
GRCh38/hg38 16p13.3(chr16:6786909-6996218)x1Pathogenic
See cases
☆☆☆☆2010
NM_018723.4(RBFOX1):c.406del (p.Met136fs)Pathogenic
Colorectal cancer
☆☆☆☆→ Residue 136