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.D1438E

c.4314C>A

Surrounding Variants

1 paper

NM_001278298.2

p.D1438E

c.4314C>G

1 paper

NM_001278298.2

p.Q1436R

c.4307A>G

1 paper

NM_001278298.2

p.V1429I

c.4285G>A

1 paper

NM_001278298.2

p.Q1450R

c.4349A>G

4 papers

NM_001278298.2

p.C1477S

c.4429T>A

4 papers

NM_001278298.2

p.C1477S

c.4430G>C

2 papers

NM_001278298.2

p.P1502H

c.4505C>A

1 paper

NM_001278298.2

p.G1506R

c.4516G>A

1 paper

NM_001278298.2

p.G1506R

c.4516G>C

1 paper

NM_001278298.2

p.P1511T

c.4531C>A

1 paper

NM_001278298.2

p.D1513Y

c.4537G>T

1 paper

NM_001278298.2

p.R1384fs

c.4150_4151fs