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

2 papers

NM_001102608.3

p.R342*

c.1024C>T

Surrounding Variants

1 paper

NM_001102608.3

p.R356*

c.1066C>T

1 paper

NM_001102608.3

p.R356Q

c.1067G>A

1 paper

NM_001102608.3

p.R327Q

c.980G>A

2 papers

NM_001102608.3

p.R357W

c.1069C>T

1 paper

NM_001102608.3

p.R357L

c.1070G>T

1 paper

NM_001102608.3

p.G359R

c.1075G>C

1 paper

NM_001102608.3

p.S321N

c.962G>A

1 paper

NM_001102608.3

p.E318D

c.954A>C

1 paper

NM_001102608.3

p.E318D

c.954A>T

1 paper

NM_001102608.3

p.K317N

c.951G>C

1 paper

NM_001102608.3

p.K317N

c.951G>T

1 paper

NM_001102608.3

p.G366V

c.1097G>T