RASGEF1B

Chr 4

RasGEF domain family member 1B

Also known as: GPIG4

NCBI Gene: 153020 ENSG00000138670 UniProt: Q0VAM2 OMIM: 614532

The protein functions as a guanine nucleotide exchange factor with specificity for RAP2A and is involved in Ras protein signal transduction. This gene is highly constrained against loss-of-function variants (pLI 0.92, LOEUF 0.35), but no established human disease associations have been reported in the provided data.

OMIM ResearchSummary from RefSeq, UniProt

Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in early endosome; late endosome; and midbody. 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

0.35

LOEUF· LoF intol.

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Mechanism