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.Y1833H

c.5497T>C

Surrounding Variants

1 paper

NM_001102608.3

p.E1829D

c.5487A>C

1 paper

NM_001102608.3

p.E1829D

c.5487A>T

1 paper

NM_001102608.3

p.E1829K

c.5485G>A

1 paper

NM_001102608.3

p.L1824R

c.5471T>G

1 paper

NM_001102608.3

p.K1821E

c.5461A>G

1 paper

NM_001102608.3

p.R1847Q

c.5540G>A

1 paper

NM_001102608.3

p.A1818T

c.5452G>A

1 paper

NM_001102608.3

p.A1809T

c.5425G>A

1 paper

NM_001102608.3

p.A1861V

c.5582C>T

1 paper

NM_001102608.3

p.S1804P

c.5410T>C

5 papers

NM_001102608.3

p.H1799R

c.5396A>G

1 paper

NM_001102608.3

p.A1867T

c.5599G>A