Varaico: Literature-Extracted Genetic Variants

COL6A1

455 papers

RefSeq Summary

The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their comm...

Pfam Domains

VWAaa 37–227UCSCvon Willebrand factor type A domain

Collagenaa 253–310UCSCCollagen triple helix repeat (20 copies)

Collagenaa 293–368UCSCCollagen triple helix repeat (20 copies)

Collagenaa 347–423UCSCCollagen triple helix repeat (20 copies)

Collagenaa 449–517UCSCCollagen triple helix repeat (20 copies)

Collagenaa 500–564UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type VI alpha 1 chain

HGNC Previous Name

collagen, type VI, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

32 papers

NM_001848.3

p.G293R

c.877G>C

Surrounding Variants

36 papers

NM_001848.3

p.G293R

c.877G>A

1 paper

NM_001848.3

p.L292L

c.876C>A

1 paper

NM_001848.3

p.L292L

c.876C>T

1 paper

NM_001848.3

p.G293E

c.878G>A

1 paper

NM_001848.3

p.G293insFs

c.879dupA

1 paper

NM_001848.3

p.G293V

c.878G>T

1 paper

NM_001848.3

p.P294delFs

c.881delC

1 paper

NM_001848.3

p.P294A

c.880C>G

3 papers

NM_001848.3

p.P294L

c.881C>T

1 paper

NM_001848.3

p.D291D

c.873C>T

1 paper

NM_001848.3

p.P294delFs

c.882delT

1 paper

NM_001848.3

p.V295D

c.884T>A