Varaico: Literature-Extracted Genetic Variants

COL6A2

432 papers

RefSeq Summary

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Wille...

Pfam Domains

VWAaa 46–232UCSCvon Willebrand factor type A domain

Collagenaa 254–316UCSCCollagen triple helix repeat (20 copies)

Collagenaa 301–369UCSCCollagen triple helix repeat (20 copies)

Collagenaa 352–417UCSCCollagen triple helix repeat (20 copies)

Collagenaa 409–468UCSCCollagen triple helix repeat (20 copies)

VWAaa 615–798UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

collagen type VI alpha 2 chain

HGNC Previous Name

collagen type VI alpha 2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 679 variants

16 papers

NM_001849.4

p.G657Splc

c.1970-9G>A

13 papers

NM_001849.4

p.R680H

c.2039G>A

12 papers

NM_001849.4

p.R366*

c.1096C>T

11 papers

NM_001849.4

p.R784H

c.2351G>A

10 papers

NM_001849.4

p.Q819*

c.2455C>T

9 papers

NM_001849.4

p.G268S

c.802G>A

9 papers

NM_001849.4

p.G271D

c.812G>A

9 papers

NM_001849.4

p.D621N

c.1861G>A

9 papers

NM_001849.4

p.R876S

c.2626C>A

8 papers

NM_001849.4

p.T590M

c.1769C>T

8 papers

NM_001849.4

p.G700S

c.2098G>A

8 papers

NM_001849.4

p.P932L

c.2795C>T