Varaico: Literature-Extracted Genetic Variants

COL1A1

1,333 papers

RefSeq Summary

This gene encodes the pro-alpha1 chains 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

VWCaa 40–95UCSCvon Willebrand factor type C domain

Collagenaa 107–163UCSCCollagen triple helix repeat (20 copies)

Collagenaa 177–238UCSCCollagen triple helix repeat (20 copies)

Collagenaa 236–295UCSCCollagen triple helix repeat (20 copies)

Collagenaa 296–355UCSCCollagen triple helix repeat (20 copies)

Collagenaa 353–415UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type I alpha 1 chain

HGNC Alias Symbol

OI4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

40 papers

NM_000088.4

p.G821S

c.2461G>A

Surrounding Variants

1 paper

NM_000088.4

p.G821R

c.2461G>C

2 papers

NM_000088.4

p.D820N

c.2458G>A

4 papers

NM_000088.4

p.Q822*

c.2464C>T

1 paper

NM_000088.4

p.Q822_P823insT

c.2464_2468ins3

1 paper

NM_000088.4

p.P823A

c.2467C>G

1 paper

NM_000088.4

p.G818delFs

c.2453delC

1 paper

NM_000088.4

p.G818fs

c.2452_2453fs

1 paper

NM_000088.4

p.G824C

c.2470G>T

1 paper

NM_000088.4

p.G818C

c.2452G>T

2 papers

NM_000088.4

p.G824R

c.2470G>C

1 paper

NM_000088.4

p.G818S

c.2452G>A

1 paper

NM_000088.4

p.P817_G818Splc

c.2452-1G>T