Varaico: Literature-Extracted Genetic Variants

COL4A5

875 papers

RefSeq Summary

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as ...

Pfam Domains

Collagenaa 1–57UCSCCollagen triple helix repeat (20 copies)

Collagenaa 96–158UCSCCollagen triple helix repeat (20 copies)

Collagenaa 163–223UCSCCollagen triple helix repeat (20 copies)

Collagenaa 206–266UCSCCollagen triple helix repeat (20 copies)

Collagenaa 266–315UCSCCollagen triple helix repeat (20 copies)

Collagenaa 314–374UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IV alpha 5 chain

HGNC Previous Symbols

ASLN; ATS

Papers

RefSeq ID

Protein change

DNA change

1–12 of 2545 variants

85 papers

NM_033380.3

p.G624D

c.1871G>A

45 papers

NM_033380.3

p.G953V

c.2858G>T

38 papers

NM_033380.3

p.G869R

c.2605G>A

35 papers

NM_033380.3

p.G869R

c.2605G>C

28 papers

NM_033380.3

p.G325R

c.973G>A

24 papers

NM_033380.3

p.G325R

c.973G>C

24 papers

NM_033380.3

p.G1170S

c.3508G>A

21 papers

NM_033380.3

p.G1030S

c.3088G>A

19 papers

NM_033380.3

p.G1107R

c.3319G>A

16 papers

NM_033380.3

p.G1107R

c.3319G>C

15 papers

NM_033380.3

p.R373*

c.1117C>T

15 papers

NM_033380.3

p.I444S

c.1331T>G