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

4 papers

NM_001278298.2

p.M56T

c.167T>C

Surrounding Variants

1 paper

NM_001278298.2

p.T51M

c.152C>T

1 paper

NM_001278298.2

p.P61L

c.182C>T

1 paper

NM_001278298.2

p.P47fs

c.139_140fs

1 paper

NM_001278298.2

p.F46delFs

c.138delC

1 paper

NM_001278298.2

p.F46fs

c.136_137fs

1 paper

NM_001278298.2

p.G42E

c.125G>A

1 paper

NM_001278298.2

p.L34V

c.100C>G

1 paper

NM_001278298.2

p.F33insFs

c.99dupT

1 paper

NM_001278298.2

p.V32M

c.94G>A

1 paper

NM_001278298.2

p.E81K

c.241G>A

1 paper

NM_001278298.2

p.K88*

c.262A>T

1 paper

NM_001278298.2

p.P24fs

c.70_71fs