RASGEF1A

Chr 10

RasGEF domain family member 1A

Also known as: CG4853

NCBI Gene: 221002 ENSG00000198915 UniProt: Q8N9B8 OMIM: 614531

The RASGEF1A protein functions as a guanine nucleotide exchange factor that activates RAS family proteins (KRAS, HRAS, NRAS) and RAP2A, regulating cell migration and RAS signaling pathways. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, seizures, and brain malformations. This gene is highly constrained against loss-of-function mutations, indicating that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

Enables guanyl-nucleotide exchange factor activity. Involved in cell migration and positive regulation of Ras protein signal transduction. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

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Mechanism