IGBP1C

Chr 17

IGBP1 family member C

Also known as: IGBP1P2

Predicted to enable protein phosphatase 2A binding activity. Predicted to be involved in regulation of dephosphorylation. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
3
Pathogenic / LP
3
ClinVar variants
1
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryIGBP1C
📋
ClinVar Variants
3 Pathogenic / Likely Pathogenic of 3 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.6841th %ile
GOF
0.4480th %ile
LOF
0.3745th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

3 submitted variants in ClinVar

Classification Summary

Pathogenic3
3
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
Likely Pathogenic
0
VUS
0
Likely Benign
0
Benign
0
Total3

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

IGBP1C · 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.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Genenames.org: the HGNC and PGNC resources in 2026
Seal RL et al.·Nucleic Acids Res
2025
Top 1 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found