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.G158R

c.472G>A

Surrounding Variants

1 paper

NM_001102608.3

p.G158R

c.472G>C

2 papers

NM_001102608.3

p.G158E

c.473G>A

1 paper

NM_001102608.3

p.R155Q

c.464G>A

1 paper

NM_001102608.3

p.S163Y

c.488C>A

1 paper

NM_001102608.3

p.S170C

c.509C>G

1 paper

NM_001102608.3

p.E172*

c.514G>T

1 paper

NM_001102608.3

p.A139D

c.416C>A

2 papers

NM_001102608.3

p.A139V

c.416C>T

2 papers

NM_001102608.3

p.T179K

c.536C>A

2 papers

NM_001102608.3

p.L135I

c.403C>A

1 paper

NM_001102608.3

p.L186I

c.556C>A

1 paper

NM_001102608.3

p.R187W

c.559C>T