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

2 papers

NM_001278298.2

p.E2358D

c.7074A>T

Surrounding Variants

2 papers

NM_001278298.2

p.E2358D

c.7074A>C

1 paper

NM_001278298.2

p.Y2364C

c.7091A>G

1 paper

NM_001278298.2

p.H2368L

c.7103A>T

1 paper

NM_001278298.2

p.H2372L

c.7115A>T

1 paper

NM_001278298.2

p.G2333E

c.6998G>A

1 paper

NM_001278298.2

p.T2331T

c.6993C>A

1 paper

NM_001278298.2

p.Y2320*

c.6960C>A

1 paper

NM_001278298.2

p.Y2320*

c.6960C>G

1 paper

NM_001278298.2

p.F2398L

c.7192T>C

1 paper

NM_001278298.2

p.F2398L

c.7194T>A

1 paper

NM_001278298.2

p.F2398L

c.7194T>G

1 paper

NM_001278298.2

p.G2400A

c.7199G>C