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

5 papers

NM_001102608.3

p.R1739Q

c.5216G>A

Surrounding Variants

2 papers

NM_001102608.3

p.R1739*

c.5215C>T

1 paper

NM_001102608.3

p.C1732R

c.5194T>C

1 paper

NM_001102608.3

p.R1717C

c.5149C>T

1 paper

NM_001102608.3

p.M1697_I1698Splc

c.5092-3G>C

1 paper

NM_001102608.3

p.G1747Splc

c.5239+1167A>G

1 paper

NM_001102608.3

p.R1766Q

c.5297G>A

1 paper

NM_001102608.3

p.R1775Q

c.5324G>A

1 paper

NM_001102608.3

p.M1776I

c.5328G>A

1 paper

NM_001102608.3

p.M1776I

c.5328G>C

1 paper

NM_001102608.3

p.M1776I

c.5328G>T

1 paper

NM_001102608.3

p.R1790L

c.5369G>T

1 paper

NM_001102608.3

p.P1795P

c.5385C>T