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.H1049Q

c.3147C>G

Surrounding Variants

1 paper

NM_001102608.3

p.H1049Q

c.3147C>A

1 paper

NM_001102608.3

p.E1051*

c.3151G>T

1 paper

NM_001102608.3

p.L1054L

c.3162G>T

1 paper

NM_001102608.3

p.E1060K

c.3178G>A

1 paper

NM_001102608.3

p.I1039V

c.3115A>G

1 paper

NM_001102608.3

p.R1036K

c.3107G>A

1 paper

NM_001102608.3

p.Q1066*

c.3196C>T

1 paper

NM_001102608.3

p.N1076delFs

c.3227_3228delAC

1 paper

NM_001102608.3

p.H1078N

c.3232C>A

1 paper

NM_001102608.3

p.I1079fs

c.3235_3236fs

1 paper

NM_001102608.3

p.M1019I

c.3057G>A

1 paper

NM_001102608.3

p.M1019I

c.3057G>C