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.G1534E

c.4601G>A

Surrounding Variants

1 paper

NM_001278298.2

p.K1524fs

c.4570_4571fs

1 paper

NM_001278298.2

p.P1517_K1524del0

c.4551_4571del21

1 paper

NM_001278298.2

p.P1517_K1524del8

c.4549_4571del24

1 paper

NM_001278298.2

p.S1539T

c.4616G>C

1 paper

NM_001278298.2

p.R1554S

c.4662G>C

1 paper

NM_001278298.2

p.R1554S

c.4662G>T

1 paper

NM_001278298.2

p.D1513Y

c.4537G>T

1 paper

NM_001278298.2

p.P1511T

c.4531C>A

1 paper

NM_001278298.2

p.G1506R

c.4516G>A

1 paper

NM_001278298.2

p.G1506R

c.4516G>C

2 papers

NM_001278298.2

p.P1502H

c.4505C>A

2 papers

NM_001278298.2

p.Q1559*

c.4675C>T