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.G883C

c.2647G>T

Surrounding Variants

1 paper

NM_001102608.3

p.E890K

c.2668G>A

1 paper

NM_001102608.3

p.E871*

c.2611G>T

1 paper

NM_001102608.3

p.G867C

c.2599G>T

1 paper

NM_001102608.3

p.G904S

c.2710G>A

5 papers

NM_001102608.3

p.R906C

c.2716C>T

1 paper

NM_001102608.3

p.R906H

c.2717G>A

1 paper

NM_001102608.3

p.I916V

c.2746A>G

1 paper

NM_001102608.3

p.I916T

c.2747T>C

3 papers

NM_001102608.3

p.D920N

c.2758G>A

1 paper

NM_001102608.3

p.D925N

c.2773G>A

1 paper

NM_001102608.3

p.L929I

c.2785C>A

1 paper

NM_001102608.3

p.T932M

c.2795C>T