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.L1699_A1700insG

c.5095_5099ins3

Surrounding Variants

1 paper

NM_001278298.2

p.L1699L

c.5095C>T

1 paper

NM_001278298.2

p.G1698*

c.5092G>T

1 paper

NM_001278298.2

p.R1712Q

c.5135G>A

1 paper

NM_001278298.2

p.R1712L

c.5135G>T

3 papers

NM_001278298.2

p.F1672V

c.5014T>G

1 paper

NM_001278298.2

p.G1671E

c.5012G>A

1 paper

NM_001278298.2

p.R1663Q

c.4988G>A

1 paper

NM_001278298.2

p.M1661V

c.4981A>G

1 paper

NM_001278298.2

p.Y1658Y

c.4974C>T

1 paper

NM_001278298.2

p.Q1650_G1651Splc

c.4951-1G>T

1 paper

NM_001278298.2

p.G1728E

c.5183G>A

1 paper

NM_001278298.2

p.Q1734*

c.5200C>T