NICOL1
Chr 4NELL2 interacting cell ontogeny regulator 1
Also known as: C4orf48, CHR4_55, NICOL
The protein binds to the 3'-UTR of target mRNAs including SERPINE1, ACTA2, CCN2 and COL4A1, stabilizing these transcripts and promoting extracellular matrix production, and also functions as a testis-derived factor that triggers epididymal differentiation and sperm maturation. Based on the available data, no specific disease associations or inheritance patterns have been established for NICOL1 mutations in pediatric populations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
158 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 134 |
Likely Pathogenic | — | — | — | — | 6 |
VUS | — | — | — | — | 13 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
| Total | — | 154 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NICOL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools