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.Q1835K

c.5503C>A

Surrounding Variants

1 paper

NM_001278298.2

p.Y1834*

c.5502T>A

1 paper

NM_001278298.2

p.Y1834*

c.5502T>G

1 paper

NM_001278298.2

p.P1840H

c.5519C>A

1 paper

NM_001278298.2

p.R1841Q

c.5522G>A

1 paper

NM_001278298.2

p.R1852C

c.5554C>T

1 paper

NM_001278298.2

p.W1816*

c.5448G>A

1 paper

NM_001278298.2

p.W1816*

c.5447G>A

1 paper

NM_001278298.2

p.R1857W

c.5569C>T

1 paper

NM_001278298.2

p.Y1806C

c.5417A>G

1 paper

NM_001278298.2

p.G1798R

c.5392G>A

1 paper

NM_001278298.2

p.G1798R

c.5392G>C

1 paper

NM_001278298.2

p.T1884_T1886del3

c.5650_5657del9