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

4 papers

NM_001102608.3

p.I1137T

c.3410T>C

Surrounding Variants

1 paper

NM_001102608.3

p.Q1143K

c.3427C>A

1 paper

NM_001102608.3

p.Q1143R

c.3428A>G

1 paper

NM_001102608.3

p.D1131N

c.3391G>A

1 paper

NM_001102608.3

p.Q1115Q

c.3345A>G

1 paper

NM_001102608.3

p.T1110K

c.3329C>A

1 paper

NM_001102608.3

p.K1166N

c.3498G>C

1 paper

NM_001102608.3

p.K1166N

c.3498G>T

1 paper

NM_001102608.3

p.Q1104H

c.3312G>C

1 paper

NM_001102608.3

p.Q1104H

c.3312G>T

1 paper

NM_001102608.3

p.V1172I

c.3514G>A

1 paper

NM_001102608.3

p.A1179V

c.3536C>T

1 paper

NM_001102608.3

p.I1079fs

c.3235_3236fs