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.Q106H

c.318G>T

Surrounding Variants

1 paper

NM_001102608.3

p.Q106H

c.318G>C

1 paper

NM_001102608.3

p.G108fs

c.322_323fs

1 paper

NM_001102608.3

p.L105P

c.314T>C

1 paper

NM_001102608.3

p.G103R

c.307G>A

1 paper

NM_001102608.3

p.G103R

c.307G>C

1 paper

NM_001102608.3

p.G102G

c.306C>G

1 paper

NM_001102608.3

p.Q112*

c.334C>T

1 paper

NM_001102608.3

p.Q112P

c.335A>C

1 paper

NM_001102608.3

p.H115Q

c.345C>A

1 paper

NM_001102608.3

p.H115Q

c.345C>G

1 paper

NM_001102608.3

p.H93Y

c.277C>T

2 papers

NM_001102608.3

p.N92K

c.276C>A