Varaico: Literature-Extracted Genetic Variants

COL2A1

994 papers

RefSeq Summary

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrod...

Pfam Domains

VWCaa 34–89UCSCvon Willebrand factor type C domain

Collagenaa 116–182UCSCCollagen triple helix repeat (20 copies)

Collagenaa 199–260UCSCCollagen triple helix repeat (20 copies)

Collagenaa 240–318UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type II alpha 1 chain

HGNC Previous Symbols

SEDC; AOM

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001844.5

p.G276D

c.827G>A

Surrounding Variants

37 papers

NM_001844.5

p.R275C

c.823C>T

1 paper

NM_001844.5

p.A274T

c.820G>A

1 paper

NM_001844.5

p.G273fs

c.817_818fs

1 paper

NM_033150.3

p.G204R

c.610G>C

2 papers

NM_001844.5

p.Q272_G273Splc

c.817-1G>A

1 paper

NM_001844.5

p.G282A

c.845G>C

3 papers

NM_001844.5

p.G282D

c.845G>A

4 papers

NM_001844.5

p.Q272_G273Splc

c.817-9G>A

1 paper

NM_001844.5

p.L283P

c.848T>C

2 papers

NM_001844.5

p.G288S

c.862G>A

1 paper

NM_001844.5

p.G288A

c.863G>C

1 paper

NM_001844.5

p.R290_G291insFs

c.870_871insGT