IQGAP1

Chr 15

IQ motif containing GTPase activating protein 1

Also known as: HUMORFA01, SAR1, p195

NCBI Gene: 8826ENSG00000140575UniProt: P46940OMIM: 603379

This protein regulates actin cytoskeleton dynamics and assembly, binds to activated CDC42, associates with calmodulin, and promotes neurite outgrowth. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene follows autosomal dominant inheritance and is highly constrained against loss-of-function variants.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.28
Clinical Summary— IQGAP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
36 unique Pathogenic / Likely Pathogenic· 100 VUS of 154 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.998
Z-score 7.43
OE 0.19 (0.13–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.44Z-score
OE missense 0.77 (0.72–0.82)
680 obs / 884.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.19 (0.13–0.28)
0≤0.351.4
Missense OE0.77 (0.72–0.82)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 18 / 97.0Missense obs/exp: 680 / 884.6Syn Z: -1.12

ClinVar Variant Classifications

154 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic2
VUS100
Likely Benign9
Benign7
Conflicting1
34
Pathogenic
2
Likely Pathogenic
100
VUS
9
Likely Benign
7
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
2
0
2
VUS
0
95
5
0
100
Likely Benign
0
4
1
4
9
Benign
0
2
3
2
7
Conflicting
—1
Total0101456153

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

IQGAP1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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