Varaico: Literature-Extracted Genetic Variants

COL4A1

728 papers

RefSeq Summary

This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opp...

Pfam Domains

Collagenaa 37–105UCSCCollagen triple helix repeat (20 copies)

Collagenaa 61–128UCSCCollagen triple helix repeat (20 copies)

Collagenaa 97–162UCSCCollagen triple helix repeat (20 copies)

Collagenaa 167–225UCSCCollagen triple helix repeat (20 copies)

Collagenaa 273–334UCSCCollagen triple helix repeat (20 copies)

Collagenaa 474–533UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IV alpha 1 chain

HGNC Previous Name

collagen, type IV, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 1300 variants

31 papers

NM_001845.6

p.G498V

c.1493G>T

30 papers

NM_001845.6

p.G755R

c.2263G>A

30 papers

NM_001845.6

p.G773R

c.2317G>C

30 papers

NM_001845.6

p.G773R

c.2317G>A

29 papers

NM_001845.6

p.G755R

c.2263G>C

21 papers

NM_001845.6

p.G720D

c.2159G>A

20 papers

NM_001845.6

p.G394V

c.1181G>T

19 papers

NM_001845.6

p.G696S

c.2086G>A

18 papers

NM_001845.6

p.G562E

c.1685G>A

18 papers

NM_001845.6

p.G832R

c.2494G>A

17 papers

NM_001845.6

p.G832R

c.2494G>C

17 papers

NM_001845.6

p.G1236R

c.3706G>C