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.G1353V

c.4058G>T

Surrounding Variants

1 paper

NM_001102608.3

p.S1361C

c.4082C>G

1 paper

NM_001102608.3

p.A1337V

c.4010C>T

1 paper

NM_001102608.3

p.R1370W

c.4108C>T

1 paper

NM_001102608.3

p.R1381K

c.4142G>A

1 paper

NM_001102608.3

p.P1402Q

c.4205C>A

1 paper

NM_001102608.3

p.K1405*

c.4213A>T

1 paper

NM_001102608.3

p.G1416C

c.4246G>T

1 paper

NM_001102608.3

p.I1423I

c.4269C>T

1 paper

NM_001102608.3

p.G1324Splc

c.3970+2T>A

1 paper

NM_001102608.3

p.E1323K

c.3967G>A

3 papers

NM_001102608.3

p.R1295*

c.3883C>T

1 paper

NM_001102608.3

p.I1268T

c.3803T>C