CRIPTO
Chr 3cripto, EGF-CFC family member
Also known as: CR, CR-1, CRGF, TDGF1
The encoded protein is a GPI-anchored membrane protein that acts as a coreceptor for Nodal signaling during embryonic development, particularly in mesoderm formation. Mutations cause forebrain defects with inheritance pattern not definitively established in the literature. The gene shows extremely low constraint against loss-of-function variants (pLI near 0), suggesting tolerance to such mutations.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
77 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 30 | 1 | 0 | 31 |
Likely Benign | 0 | 4 | 14 | 3 | 21 |
Benign | 0 | 3 | 10 | 3 | 16 |
| Total | 0 | 37 | 33 | 6 | 76 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRIPTO · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
United States Hypophosphatasia Molecular Research Center
ACTIVE NOT RECRUITINGPREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
RECRUITINGBCMA-CD19 cCAR in Multiple Myeloma and Plasmacytoid Lymphoma
RECRUITINGModeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
RECRUITINGUCD19 CAR T Therapy in Adults With B-ALL and MRD Positivity in CR1
RECRUITINGPrecision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
RECRUITINGINFORM2 Study Uses Nivolumab and Entinostat in Children and Adolescents With High-risk Refractory Malignancies
RECRUITINGEfficacy and Safety of Chemotherapy Combined With CAR-T Cells in Newly Diagnosed Adult Patients With Ph- B-ALL
RECRUITINGExternal Resources
Links to major genomics databases and tools