Varaico: Literature-Extracted Genetic Variants

COL5A3

158 papers

RefSeq Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen i...

Pfam Domains

Collagenaa 476–535UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1430–1492UCSCCollagen triple helix repeat (20 copies)

COLFIaa 1512–1743UCSCFibrillar collagen C-terminal domain

Gene Aliases

HGNC Name

collagen type V alpha 3 chain

HGNC Previous Name

collagen type V alpha 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 239 variants

6 papers

NM_015719.4

p.V1428M

c.4282G>A

5 papers

NM_015719.4

p.V1195A

c.3584T>C

4 papers

NM_015719.4

p.N226Y

c.676A>T

3 papers

NM_015719.4

p.R245W

c.733C>T

3 papers

NM_015719.4

p.A280P

c.838G>C

3 papers

NM_015719.4

p.R1042P

c.3125G>C

3 papers

NM_015719.4

p.P1125S

c.3373C>T

3 papers

NM_015719.4

p.I1594M

c.4782C>G

2 papers

NM_015719.4

p.E49*

c.145G>T

2 papers

NM_015719.4

p.E561D

c.1683G>T

2 papers

NM_015719.4

p.E561D

c.1683G>C

2 papers

NM_015719.4

p.G602E

c.1805G>A