COL6A1 — collagen type VI alpha 1 chain

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

150PubMed Papers

#3,013 · top 15% of 19K genes

22Diseases

top 4%

2Drugs

top 67%

195Pathogenic Variants

top 6%

FDA Approved TargetOMIM Disease GeneHub GeneVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

osteoblast differentiationprotein bindingcollagen bindingplatelet-derived growth factor bindingBethlem myopathy 1AUllrich congenital muscular dystrophy 1ABethlem myopathyCongenital muscular dystrophy, Ullrich type

AI Summary

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collagen type VI alpha 1 chain

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations22

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.428+1G>APathogenic

Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A

★★☆☆2026

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.904G>A (p.Gly302Arg)Pathogenic

not provided|Bethlem myopathy 1A|COL6A1-related disorder

★★☆☆2026→ Residue 302

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.868G>A (p.Gly290Arg)Pathogenic

not provided|Bethlem myopathy 1A|Inborn genetic diseases|Ullrich congenital muscular dystrophy 1A|Abnormality of the musculature

★★☆☆2025→ Residue 290

NM_001848.3(COL6A1):c.769G>C (p.Gly257Arg)Likely pathogenic

not provided

★★☆☆2025→ Residue 257

NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)Pathogenic

Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A

★★☆☆2025→ Residue 24

NM_001848.3(COL6A1):c.1575+1G>APathogenic

Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A;Bethlem myopathy 1A|not provided|Ullrich congenital muscular dystrophy 1A

★★☆☆2025

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

Bethlem myopathy 1A|not provided|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.1138G>A (p.Gly380Arg)Pathogenic

Bethlem myopathy 1A|Ullrich congenital muscular dystrophy 1A|not provided

★★☆☆2025→ Residue 380

NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)Pathogenic

not provided|Bethlem myopathy 1A

★★☆☆2025→ Residue 341

NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)Pathogenic

not provided|Ullrich congenital muscular dystrophy 1A

★★☆☆2025→ Residue 548

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.841G>A (p.Gly281Arg)Pathogenic

Ullrich congenital muscular dystrophy 1A|not provided|Bethlem myopathy 1A|COL6A1-related disorder

★★☆☆2025→ Residue 281

NM_001848.3(COL6A1):c.930+1G>APathogenic

not provided|Bethlem myopathy 1A|COL6A1-related disorder

★★☆☆2025

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.931-1G>CPathogenic

not provided|Bethlem myopathy 1A

★★☆☆2025

Drug Targets02

COLLAGENASE CLOSTRIDIUM HISTOLYTICUMApproved

Collagen hydrolytic enzyme

ulcer disease

OCRIPLASMINApproved

Laminin hydrolytic enzyme

Tissue Expression6 tissues

Ovary

100%

Lung

23%

Heart

19%

Liver

13%

Brain

Bone Marrow

Gene Interaction Network6 neighbors

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Structure1 PDB hit

Preparing viewer…

PDB9GTU · 3.14 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.71LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.59 [0.49–0.71]

Rankings4 dim

Where COL6A1 stands among ~20K protein-coding genes

#3,013of 20,598
Most Researched150 · top quartile
#577of 1,025
FDA-Approved Drug Targets2
#363of 5,522
Most Pathogenic Variants195 · top 10%
#5,392of 17,882
Most Constrained (LOEUF)0.71