COL21A1

Chr 6

collagen type XXI alpha 1 chain

Also known as: COLA1L, FP633

NCBI Gene: 81578ENSG00000124749UniProt: Q96P44

This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.00
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.000
Z-score 1.52
OE 0.78 (0.61–1.00)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.81Z-score
OE missense 0.90 (0.83–0.97)
421 obs / 470.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.61–1.00)
0≤0.351.4
Missense OE?0.90 (0.83–0.97)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 43 / 55.1Missense obs/exp: 421 / 470.4Syn Z: -1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COL21A1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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