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GeneE
0 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COL6A1
collagen type VI alpha 1 chain
Chromosome 21 · 21q22.3
NCBI Gene: 1291Ensembl: ENSG00000142156.17HGNC: HGNC:2211UniProt: A0A384P5H7
150PubMed Papers
22Diseases
2Drugs
195Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
osteoblast differentiationprotein bindingcollagen bindingplatelet-derived growth factor bindingBethlem myopathy 1AUllrich congenital muscular dystrophy 1ABethlem myopathyCongenital muscular dystrophy, Ullrich type
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

collagen type VI alpha 1 chain

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ22
Bethlem myopathy 1AOpen Targets
0.82Strong
Ullrich congenital muscular dystrophy 1AOpen Targets
0.79Strong
Bethlem myopathyOpen Targets
0.76Strong
Congenital muscular dystrophy, Ullrich typeOpen Targets
0.75Strong
collagen 6-related myopathyOpen Targets
0.62Moderate
Dupuytren ContractureOpen Targets
0.59Moderate
diverticular diseaseOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.50Moderate
myopathyOpen Targets
0.46Moderate
Abnormality of the musculatureOpen Targets
0.46Moderate
Skin ulcerOpen Targets
0.46Moderate
eye diseaseOpen Targets
0.44Moderate
ulcer diseaseOpen Targets
0.42Moderate
Peyronie diseaseOpen Targets
0.38Weak
Ullrich congenital muscular dystrophyOpen Targets
0.38Weak
Penile FibromatosisOpen Targets
0.37Weak
Abnormal retinal morphologyOpen Targets
0.37Weak
Abnormality of connective tissueOpen Targets
0.37Weak
Palmar FibromatosisOpen Targets
0.37Weak
sarcoidosisOpen Targets
0.37Weak
Bethlem myopathy 1AUniProt
Ullrich congenital muscular dystrophy 1AUniProt
Pathogenic Variants195
NM_001848.3(COL6A1):c.824G>A (p.Gly275Glu)Pathogenic
Collagen 6-related myopathy|Bethlem myopathy 1A
★★☆☆2026→ Residue 275
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)Pathogenic
Bethlem myopathy 1A|not provided
★★☆☆2025→ Residue 121
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)Pathogenic
not specified|not provided|Bethlem myopathy 1A|COL6A1-related disorder
★★☆☆2025→ Residue 476
NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg)Likely pathogenic
not provided
★★☆☆2025→ Residue 257
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)Pathogenic
not provided|Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A|Collagen 6-related myopathy|ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A, AUTOSOMAL DOMINANT
★★☆☆2025→ Residue 284
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)Pathogenic
not provided|Bethlem myopathy 1A|Collagen 6-related myopathy|Bethlem myopathy 1A;Ullrich congenital muscular dystrophy 1A
★★☆☆2025→ Residue 293
NM_001848.3(COL6A1):c.886G>C (p.Gly296Arg)Likely pathogenic
Bethlem myopathy 1A
★★☆☆2025→ Residue 296
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)Pathogenic
not provided|Bethlem myopathy 1A
★★☆☆2025→ Residue 341
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)Pathogenic
Bethlem myopathy 1A|not provided|COL6A1-related disorder
★★☆☆2025→ Residue 341
NM_001848.3(COL6A1):c.930+1G>APathogenic
not provided|Bethlem myopathy 1A|COL6A1-related disorder
★★☆☆2025
NM_001848.3(COL6A1):c.1056+1G>APathogenic
Bethlem myopathy 1A|not provided|Sensorimotor neuropathy|Abnormality of the musculature
★★☆☆2025
NM_001848.3(COL6A1):c.931-1G>CPathogenic
not provided|Bethlem myopathy 1A
★★☆☆2025
NM_001848.3(COL6A1):c.930+189C>TPathogenic
Bethlem myopathy 1A|not provided|Ullrich congenital muscular dystrophy 1A|Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A
★★☆☆2025
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)Pathogenic
not provided|Bethlem myopathy 1A
★★☆☆2025→ Residue 269
NM_001848.3(COL6A1):c.1002+1G>APathogenic
not provided|Bethlem myopathy 1A
★★☆☆2025
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)Pathogenic
not provided|Bethlem myopathy 1A
★★☆☆2025→ Residue 299
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)Pathogenic
Bethlem myopathy 1A|not provided
★★☆☆2025→ Residue 341
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)Pathogenic
not provided|Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A|Inborn genetic diseases|Abnormality of the musculature
★★☆☆2025→ Residue 290
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)Pathogenic
not provided|Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A
★★☆☆2025→ Residue 310
NM_001848.3(COL6A1):c.94C>T (p.Gln32Ter)Pathogenic
Bethlem myopathy 1A|not provided
★★☆☆2025→ Residue 32
View on ClinVar ↗
Drug Targets2
COLLAGENASE CLOSTRIDIUM HISTOLYTICUMApproved
Collagen hydrolytic enzyme
ulcer disease
OCRIPLASMINApproved
Laminin hydrolytic enzyme
Related Genes
ITGA6Protein interaction100%FN1Protein interaction100%ITGA3Protein interaction98%SERPINH1Protein interaction97%ITGA5Protein interaction95%GP6Protein interaction94%
Tissue Expression6 tissues
Ovary
100%
Lung
23%
Heart
19%
Liver
13%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
COL6A1ITGA6FN1ITGA3SERPINH1ITGA5GP6
PROTEIN STRUCTURE
Preparing viewer…
PDB9GTU · 3.14 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.49–0.71]
RankingsWhere COL6A1 stands among ~20K protein-coding genes
  • #3,013of 20,598
    Most Researched150 · top quartile
  • #577of 1,025
    FDA-Approved Drug Targets2
  • #357of 5,498
    Most Pathogenic Variants195 · top 10%
  • #5,392of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedCOL6A1
Sources retrieved0 papers
Response time—