Varaico: Literature-Extracted Genetic Variants

COL1A2

1,065 papers

RefSeq Summary

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and ...

Pfam Domains

Collagenaa 29–82UCSCCollagen triple helix repeat (20 copies)

Collagenaa 88–150UCSCCollagen triple helix repeat (20 copies)

Collagenaa 178–248UCSCCollagen triple helix repeat (20 copies)

Collagenaa 199–269UCSCCollagen triple helix repeat (20 copies)

Collagenaa 460–528UCSCCollagen triple helix repeat (20 copies)

Collagenaa 516–581UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type I alpha 2 chain

HGNC Previous Symbol

OI4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000089.4

p.A351S

c.1051G>T

Surrounding Variants

1 paper

NM_000089.4

p.P350T

c.1048C>A

1 paper

NM_000089.4

p.P350insFs

c.1048_1049ins5

1 paper

NM_000089.4

p.P350S

c.1048C>T

5 papers

NM_000089.4

p.G352S

c.1054G>A

2 papers

NM_000089.4

p.G349A

c.1046G>C

5 papers

NM_000089.4

p.G349S

c.1045G>A

2 papers

NM_000089.4

p.G349R

c.1045G>C

27 papers

NM_000089.4

p.G349C

c.1045G>T

1 paper

NM_000089.4

p.K354insFs

c.1060_1061insC

1 paper

NM_000089.4

p.G355R

c.1063G>A

1 paper

NM_000089.4

p.G355R

c.1063G>C

1 paper

NM_000089.4

p.G355E

c.1064G>A