0 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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46PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLEHighly ConstrainedKinaseTranscription Factor
CLINICALOMIM Disease Gene
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
L-selenocysteine biosynthetic processprotein bindingidentical protein bindingcell redox homeostasisneurodegenerative diseaseNeurodevelopmental disorderAbnormality of the gastrointestinal tractrenal osteodystrophy
AI summary not yet available. Showing NCBI Gene summary.
selenophosphate synthetase 1
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
Neurodevelopmental disorderOpen Targets
Abnormality of the gastrointestinal tractOpen Targets
renal osteodystrophyOpen Targets
male infertilityOpen Targets
diabetic ketoacidosisOpen Targets
hepatocellular carcinomaOpen Targets
microphthalmia with limb anomaliesOpen Targets
placenta praeviaOpen Targets
colorectal carcinomaOpen Targets
ovarian dysfunctionOpen Targets
adrenal cortex carcinomaOpen Targets
lung adenocarcinomaOpen Targets
urinary bladder carcinomaOpen Targets
breast cancerOpen Targets
Ververi-Brady syndrome 2UniProt
NM_012247.5(SEPHS1):c.1111C>G (p.Arg371Gly)Likely pathogenic
not provided|Ververi-Brady syndrome 2
★☆☆☆2022→ Residue 371
NM_012247.5(SEPHS1):c.1111C>T (p.Arg371Trp)Pathogenic
SEPHS1-related disorder|not provided|Ververi-Brady syndrome 2
★☆☆☆2022→ Residue 371
NM_012247.5(SEPHS1):c.1054T>G (p.Trp352Gly)Pathogenic
not provided
★☆☆☆2022→ Residue 352