RAPGEF3

Chr 12

Rap guanine nucleotide exchange factor 3

Also known as: CAMP-GEFI, EPAC, EPAC1, HSU79275, bcm910

Enables guanyl-nucleotide exchange factor activity and protein domain specific binding activity. Involved in several processes, including Rap protein signal transduction; cellular response to cAMP; and regulation of syncytium formation by plasma membrane fusion. Located in several cellular components, including filopodium; lamellipodium; and microvillus. Implicated in nicotine dependence. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.95
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.85
OE 0.74 (0.580.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.87Z-score
OE missense 0.90 (0.830.96)
498 obs / 555.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.580.95)
00.351.4
Missense OE?0.90 (0.830.96)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 43 / 58.3Missense obs/exp: 498 / 555.5Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RAPGEF3 · 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

No active trials found for this gene.

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