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.D2031H

c.6091G>C

Surrounding Variants

1 paper

NM_001278298.2

p.E2029Q

c.6085G>C

1 paper

NM_001278298.2

p.T2025T

c.6075A>C

1 paper

NM_001278298.2

p.Q2038H

c.6114A>C

1 paper

NM_001278298.2

p.Q2038H

c.6114A>T

1 paper

NM_001278298.2

p.T2047A

c.6139A>G

5 papers

NM_001278298.2

p.Q2050*

c.6148C>T

1 paper

NM_001278298.2

p.S2002*

c.6005C>A

1 paper

NM_001278298.2

p.S2002*

c.6005C>G

2 papers

NM_001278298.2

p.R2060S

c.6178C>A

1 paper

NM_001278298.2

p.V1986A

c.5957T>C

1 paper

NM_001278298.2

p.R2077T

c.6230G>C

1 paper

NM_001278298.2

p.E1978_K1980del3

c.5932_5939del9