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

5 papers

NM_001278298.2

p.E2501K

c.7501G>A

Surrounding Variants

1 paper

NM_001278298.2

p.P2515L

c.7544C>T

1 paper

NM_001278298.2

p.L2527P

c.7580T>C

1 paper

NM_001278298.2

p.D2542H

c.7624G>C

2 papers

NM_001278298.2

p.A2589T

c.7765G>A

5 papers

NM_001278298.2

p.H2590fs

c.7768_7769fs

9 papers

NM_001278298.2

p.L2591delFs

c.7772delT

1 paper

NM_001278298.2

p.L2591fs

c.7771_7772fs

4 papers

NM_001278298.2

p.L2591*

c.7772T>A

4 papers

NM_001278298.2

p.L2591*

c.7772T>G

1 paper

NM_001278298.2

p.D2607Splc

c.7819+1G>A

1 paper

NM_001278298.2

p.R2493C

c.7477C>T

1 paper

NM_001278298.2

p.N2478S

c.7433A>G