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.D2122N

c.6364G>A

Surrounding Variants

1 paper

NM_001278298.2

p.R2120H

c.6359G>A

1 paper

NM_001278298.2

p.R2120C

c.6358C>T

1 paper

NM_001278298.2

p.Y2130F

c.6389A>T

1 paper

NM_001278298.2

p.L2102L

c.6306G>A

1 paper

NM_001278298.2

p.M2099fs

c.6295_6296fs

1 paper

NM_001278298.2

p.N2148H

c.6442A>C

1 paper

NM_001278298.2

p.R2093K

c.6278G>A

2 papers

NM_001278298.2

p.A2151A

c.6453G>A

2 papers

NM_001278298.2

p.R2162S

c.6486G>C

2 papers

NM_001278298.2

p.R2162S

c.6486G>T

1 paper

NM_001278298.2

p.R2077T

c.6230G>C

2 papers

NM_001278298.2

p.R2060S

c.6178C>A