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

1–12 of 363 variants

5 papers

NM_001102608.3

p.R906C

c.2716C>T

5 papers

NM_001102608.3

p.R1739Q

c.5216G>A

5 papers

NM_001102608.3

p.H1799R

c.5396A>G

4 papers

NM_001102608.3

p.N124Y

c.370A>T

4 papers

NM_001102608.3

p.I1137T

c.3410T>C

3 papers

NM_001102608.3

p.A370T

c.1108G>A

3 papers

NM_001102608.3

p.D920N

c.2758G>A

3 papers

NM_001102608.3

p.R937W

c.2809C>T

3 papers

NM_001102608.3

p.R1295*

c.3883C>T

3 papers

NM_001102608.3

p.R1480*

c.4438A>T

3 papers

NM_001102608.3

p.R1644H

c.4931G>A

2 papers

NM_001102608.3

p.M53I

c.159G>A