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

1–12 of 316 variants

9 papers

NM_001278298.2

p.L2591delFs

c.7772delT

7 papers

NM_001278298.2

p.E2272*

c.6814G>T

6 papers

NM_001278298.2

p.E455K

c.1363G>A

5 papers

NM_001278298.2

p.Q2050*

c.6148C>T

5 papers

NM_001278298.2

p.E2501K

c.7501G>A

5 papers

NM_001278298.2

p.H2590fs

c.7768_7769fs

4 papers

NM_001278298.2

p.M56T

c.167T>C

4 papers

NM_001278298.2

p.V669G

c.2006T>G

4 papers

NM_001278298.2

p.C1477S

c.4429T>A

4 papers

NM_001278298.2

p.C1477S

c.4430G>C

4 papers

NM_001278298.2

p.L2591*

c.7772T>A

4 papers

NM_001278298.2

p.L2591*

c.7772T>G