Varaico: Literature-Extracted Genetic Variants

COL6A5

223 papers

RefSeq Summary

This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of c...

Pfam Domains

VWAaa 30–203UCSCvon Willebrand factor type A domain

VWAaa 236–408UCSCvon Willebrand factor type A domain

VWAaa 442–611UCSCvon Willebrand factor type A domain

VWAaa 628–796UCSCvon Willebrand factor type A domain

VWAaa 814–986UCSCvon Willebrand factor type A domain

VWAaa 1005–1175UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

collagen type VI alpha 5 chain

HGNC Previous Symbol

COL29A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278298.2

p.R567insFs

c.1699_1700insG

Surrounding Variants

1 paper

NM_001278298.2

p.A568fs

c.1702_1703fs

1 paper

NM_001278298.2

p.A568D

c.1703C>A

1 paper

NM_001278298.2

p.V560M

c.1678G>A

1 paper

NM_001278298.2

p.D557H

c.1669G>C

2 papers

NM_001278298.2

p.A581V

c.1742C>T

1 paper

NM_001278298.2

p.D552H

c.1654G>C

1 paper

NM_001278298.2

p.L547L

c.1641C>A

1 paper

NM_001278298.2

p.Q587H

c.1761A>C

1 paper

NM_001278298.2

p.Q587H

c.1761A>T

1 paper

NM_001278298.2

p.E588*

c.1762G>T

1 paper

NM_001278298.2

p.G591W

c.1771G>T

1 paper

NM_001278298.2

p.K542N

c.1626G>C