Varaico: Literature-Extracted Genetic Variants

COL6A6

207 papers

RefSeq Summary

This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronec...

Pfam Domains

VWAaa 27–199UCSCvon Willebrand factor type A domain

VWAaa 229–402UCSCvon Willebrand factor type A domain

VWAaa 436–605UCSCvon Willebrand factor type A domain

VWAaa 622–790UCSCvon Willebrand factor type A domain

VWAaa 809–981UCSCvon Willebrand factor type A domain

VWAaa 1000–1170UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

collagen type VI alpha 6 chain

HGNC Previous Name

collagen, type VI, alpha 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001102608.3

p.A26E

c.77C>A

Surrounding Variants

1 paper

NM_001102608.3

p.A26G

c.77C>G

1 paper

NM_001102608.3

p.A26V

c.77C>T

1 paper

NM_001102608.3

p.P23P

c.69T>C

2 papers

NM_001102608.3

p.M53I

c.159G>A

2 papers

NM_001102608.3

p.M53I

c.159G>C

2 papers

NM_001102608.3

p.M53I

c.159G>T

1 paper

NM_001102608.3

p.E60K

c.178G>A

1 paper

NM_001102608.3

p.A61T

c.181G>A

1 paper

NM_001102608.3

p.Y71*

c.213C>A

1 paper

NM_001102608.3

p.Y71*

c.213C>G

1 paper

NM_001102608.3

p.S88N

c.263G>A

1 paper

NM_001102608.3

p.M90I

c.270G>A