RRAS

Chr 19

RAS related

Also known as: R-Ras, RRAS1

NCBI Gene: 6237 ENSG00000126458 UniProt: P10301 OMIM: 165090

This gene encodes a small GTPase that regulates MAPK signaling, actin cytoskeleton organization, and integrin activity, with roles in angiogenesis, vascular homeostasis, and neuronal axon guidance. Mutations cause autosomal dominant developmental delay with variable intellectual disability, short stature, and craniofacial dysmorphism, typically presenting in early childhood. The gene shows tolerance to loss-of-function variants (pLI 0.005), suggesting the pathogenic variants may work through alternative mechanisms.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

Noonan syndrome · ADLimitednot for standalone diagnostic reporting

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.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.10

LOEUF

GOF*

Mechanism· G2P

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