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.R1739Q

c.5216G>A

Surrounding Variants

3 papers

NM_001278298.2

p.R1742W

c.5224C>T

1 paper

NM_001278298.2

p.Q1734*

c.5200C>T

1 paper

NM_001278298.2

p.P1746T

c.5236C>A

1 paper

NM_001278298.2

p.G1728E

c.5183G>A

1 paper

NM_001278298.2

p.R1712Q

c.5135G>A

1 paper

NM_001278298.2

p.R1712L

c.5135G>T

1 paper

NM_001278298.2

p.E1750D

c.5250A>C

1 paper

NM_001278298.2

p.E1750D

c.5250A>T

1 paper

NM_001278298.2

p.E1750Splc

c.5248+17T>C

1 paper

NM_001278298.2

p.L1699_A1700insG

c.5095_5099ins3

1 paper

NM_001278298.2

p.L1699L

c.5095C>T

1 paper

NM_001278298.2

p.G1698*

c.5092G>T