MRAS

Chr 3AD

muscle RAS oncogene homolog

Also known as: M-RAs, NS11, R-RAS3, RRAS3

NCBI Gene: 22808ENSG00000158186UniProt: O14807OMIM: 608435

This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Noonan syndrome 11MIM #618499
AD

Clinical highlights

Gene-disease validity (ClinGen)
Noonan syndrome · ADModerateconsider for supplementary testing
Interpreting a novel variant
Gain of function is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
405
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.37
LOEUF
GOF*
Mechanism· G2P
📖
GeneReview available — MRAS
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.37LOEUF
pLI 0.921
Z-score 2.64
OE 0.00 (0.00–0.37)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.33Z-score
OE missense 0.43 (0.34–0.53)
56 obs / 130.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.37)
0≤0.351.4
Missense OE?0.43 (0.34–0.53)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 0 / 8.1Missense obs/exp: 56 / 130.9Syn Z: 0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MRAS · protein map & ClinVar variants

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

VCEP specificationsRASopathyPilot
Specifications ↗Panel ↗

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