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.N702H

c.2104A>C

Surrounding Variants

1 paper

NM_001278298.2

p.D696N

c.2086G>A

1 paper

NM_001278298.2

p.A710V

c.2129C>T

1 paper

NM_001278298.2

p.S692Y

c.2075C>A

1 paper

NM_001278298.2

p.F718L

c.2152T>C

1 paper

NM_001278298.2

p.F718L

c.2154C>A

1 paper

NM_001278298.2

p.F718L

c.2154C>G

1 paper

NM_001278298.2

p.R684S

c.2052A>T

1 paper

NM_001278298.2

p.R725C

c.2173C>T

1 paper

NM_001278298.2

p.L732F

c.2194C>T

4 papers

NM_001278298.2

p.V669G

c.2006T>G

1 paper

NM_001278298.2

p.A662T

c.1984G>A

1 paper

NM_001278298.2

p.I660del1

c.1978_1980delATT