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.G269R

c.805G>C

Surrounding Variants

1 paper

NM_001102608.3

p.D260G

c.779A>G

1 paper

NM_001102608.3

p.K289N

c.867G>C

1 paper

NM_001102608.3

p.Y247C

c.740A>G

1 paper

NM_001102608.3

p.F245I

c.733T>A

2 papers

NM_001102608.3

p.L293L

c.879C>G

1 paper

NM_001102608.3

p.I296T

c.887T>C

1 paper

NM_001102608.3

p.D235V

c.704A>T

1 paper

NM_001102608.3

p.L234F

c.702G>C

1 paper

NM_001102608.3

p.L315fs

c.943_944fs

1 paper

NM_001102608.3

p.C222F

c.665G>T

1 paper

NM_001102608.3

p.K317N

c.951G>C

1 paper

NM_001102608.3

p.K317N

c.951G>T