FRS3

Chr 6

fibroblast growth factor receptor substrate 3

Also known as: FRS2-beta, FRS2B, FRS2beta, SNT-2, SNT2

NCBI Gene: 10817ENSG00000137218UniProt: O43559

This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.46
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.46LOEUF
pLI 0.550
Z-score 3.28
OE 0.20 (0.10–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.92Z-score
OE missense 0.86 (0.78–0.95)
276 obs / 322.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.10–0.46)
0≤0.351.4
Missense OE?0.86 (0.78–0.95)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 4 / 19.7Missense obs/exp: 276 / 322.3Syn Z: -0.88

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FRS3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients