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.H1345Y

c.4033C>T

Surrounding Variants

1 paper

NM_001278298.2

p.A1334V

c.4001C>T

1 paper

NM_001278298.2

p.K1372E

c.4114A>G

1 paper

NM_001278298.2

p.A1382_E1383delFs

c.4146_4147delAG

1 paper

NM_001278298.2

p.R1384fs

c.4150_4151fs

1 paper

NM_001278298.2

p.N1283K

c.3849C>A

1 paper

NM_001278298.2

p.N1283K

c.3849C>G

3 papers

NM_001278298.2

p.T1280P

c.3838A>C

1 paper

NM_001278298.2

p.G1278G

c.3834G>T

1 paper

NM_001278298.2

p.F1268I

c.3802T>A

1 paper

NM_001278298.2

p.V1267delFs

c.3801delG

1 paper

NM_001278298.2

p.A1247V

c.3740C>T

1 paper

NM_001278298.2

p.S1235_C1236del2

c.3703_3707del6