Varaico: Literature-Extracted Genetic Variants

COL6A5

223 papers

RefSeq Summary

This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of c...

Pfam Domains

VWAaa 30–203UCSCvon Willebrand factor type A domain

VWAaa 236–408UCSCvon Willebrand factor type A domain

VWAaa 442–611UCSCvon Willebrand factor type A domain

VWAaa 628–796UCSCvon Willebrand factor type A domain

VWAaa 814–986UCSCvon Willebrand factor type A domain

VWAaa 1005–1175UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

collagen type VI alpha 5 chain

HGNC Previous Symbol

COL29A1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001278298.2

p.G128W

c.382G>T

Surrounding Variants

1 paper

NM_001278298.2

p.P135fs

c.403_404fs

1 paper

NM_001278298.2

p.P135S

c.403C>T

1 paper

NM_001278298.2

p.P135insFs

c.404_405ins7

1 paper

NM_001278298.2

p.L138M

c.412T>A

1 paper

NM_001278298.2

p.E145A

c.434A>C

1 paper

NM_001278298.2

p.D148Y

c.442G>T

1 paper

NM_001278298.2

p.E151A

c.452A>C

1 paper

NM_001278298.2

p.N100D

c.298A>G

1 paper

NM_001278298.2

p.L157P

c.470T>C

1 paper

NM_001278298.2

p.K98Q

c.292A>C

3 papers

NM_001278298.2

p.G161R

c.481G>A

3 papers

NM_001278298.2

p.G161R

c.481G>C