Varaico: Literature-Extracted Genetic Variants

COL4A4

681 papers

RefSeq Summary

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement...

Pfam Domains

Collagenaa 62–121UCSCCollagen triple helix repeat (20 copies)

Collagenaa 116–176UCSCCollagen triple helix repeat (20 copies)

Collagenaa 181–238UCSCCollagen triple helix repeat (20 copies)

Collagenaa 296–360UCSCCollagen triple helix repeat (20 copies)

Collagenaa 364–428UCSCCollagen triple helix repeat (20 copies)

Collagenaa 495–560UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IV alpha 4 chain

HGNC Alias Symbol

CA44

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

31 papers

NM_000092.5

p.S969*

c.2906C>A

Surrounding Variants

32 papers

NM_000092.5

p.S969*

c.2906C>G

3 papers

NM_000092.5

p.Q970*

c.2908C>T

6 papers

NM_000092.5

p.I967V

c.2899A>G

1 paper

NM_000092.5

p.G972fs

c.2914_2915fs

2 papers

NM_000092.5

p.T973I

c.2918C>T

1 paper

NM_000092.5

p.E964*

c.2890G>T

1 paper

NM_000092.5

p.G975V

c.2924G>T

2 papers

NM_000092.5

p.E962*

c.2884G>T

1 paper

NM_000092.5

p.E976E

c.2928A>G

2 papers

NM_000092.5

p.G978R

c.2932G>C

2 papers

NM_000092.5

p.G978R

c.2932G>A

1 paper

NM_000092.5

p.G960A

c.2879G>C