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

3 papers

NM_001102608.3

p.R1644H

c.4931G>A

Surrounding Variants

1 paper

NM_001102608.3

p.P1643L

c.4928C>T

2 papers

NM_001102608.3

p.Q1647_G1648Splc

c.4941+1G>A

1 paper

NM_001102608.3

p.E1634fs

c.4900_4901fs

1 paper

NM_001102608.3

p.E1634insFs

c.4900dupG

2 papers

NM_001102608.3

p.G1659R

c.4975G>A

2 papers

NM_001102608.3

p.G1659R

c.4975G>C

1 paper

NM_001102608.3

p.G1659*

c.4975G>T

1 paper

NM_001102608.3

p.R1660C

c.4978C>T

1 paper

NM_001102608.3

p.G1621E

c.4862G>A

1 paper

NM_001102608.3

p.G1621R

c.4861G>A

1 paper

NM_001102608.3

p.G1621R

c.4861G>C

1 paper

NM_001102608.3

p.R1619C

c.4855C>T