Varaico: Literature-Extracted Genetic Variants

COL5A1

559 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

Laminin_G_2aa 110–228UCSCLaminin G domain

Collagenaa 467–519UCSCCollagen triple helix repeat (20 copies)

Collagenaa 557–619UCSCCollagen triple helix repeat (20 copies)

Collagenaa 987–1054UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1516–1575UCSCCollagen triple helix repeat (20 copies)

COLFIaa 1607–1836UCSCFibrillar collagen C-terminal domain

Gene Aliases

HGNC Name

collagen type V alpha 1 chain

HGNC Previous Name

collagen type V alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

42 papers

NM_000093.5

p.G530S

c.1588G>A

Surrounding Variants

1 paper

NM_000093.5

p.G529G

c.1587C>T

1 paper

NM_000093.5

p.G530G

c.1590C>A

2 papers

NM_000093.5

p.G530G

c.1590C>T

2 papers

NM_000093.5

p.D531N

c.1591G>A

1 paper

NM_000093.5

p.G528G

c.1584T>A

1 paper

NM_000093.5

p.G528D

c.1583G>A

1 paper

NM_000093.5

p.G528V

c.1583G>T

1 paper

NM_000093.5

p.G527G

c.1581A>G

3 papers

NM_000093.5

p.A532V

c.1595C>T

1 paper

NM_000093.5

p.G527E

c.1580G>A

1 paper

NM_000093.5

p.A532A

c.1596G>A

1 paper

NM_000093.5

p.A532A

c.1596G>T