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.K791N

c.2373G>C

Surrounding Variants

1 paper

NM_001278298.2

p.K791N

c.2373G>T

3 papers

NM_001278298.2

p.H805R

c.2414A>G

1 paper

NM_001278298.2

p.Y764*

c.2292C>A

1 paper

NM_001278298.2

p.Y764*

c.2292C>G

1 paper

NM_001278298.2

p.V756M

c.2266G>A

1 paper

NM_001278298.2

p.R752Q

c.2255G>A

1 paper

NM_001278298.2

p.R752W

c.2254C>T

1 paper

NM_001278298.2

p.L751I

c.2251C>A

1 paper

NM_001278298.2

p.L732F

c.2194C>T

1 paper

NM_001278298.2

p.R725C

c.2173C>T

1 paper

NM_001278298.2

p.F718L

c.2154C>A

1 paper

NM_001278298.2

p.F718L

c.2154C>G