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.G1464R

c.4390G>A

Surrounding Variants

1 paper

NM_001102608.3

p.G1464R

c.4390G>C

1 paper

NM_001102608.3

p.E1462K

c.4384G>A

1 paper

NM_001102608.3

p.D1466H

c.4396G>C

1 paper

NM_001102608.3

p.G1467E

c.4400G>A

1 paper

NM_001102608.3

p.G1470R

c.4408G>A

1 paper

NM_001102608.3

p.G1470R

c.4408G>C

1 paper

NM_001102608.3

p.E1471K

c.4411G>A

1 paper

NM_001102608.3

p.G1476D

c.4427G>A

1 paper

NM_001102608.3

p.L1477V

c.4429C>G

1 paper

NM_001102608.3

p.G1479E

c.4436G>A

3 papers

NM_001102608.3

p.R1480*

c.4438A>T

1 paper

NM_001102608.3

p.Q1490*

c.4468C>T