Varaico: Literature-Extracted Genetic Variants

COL4A2

384 papers

RefSeq Summary

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angio...

Pfam Domains

Collagenaa 56–118UCSCCollagen triple helix repeat (20 copies)

Collagenaa 112–173UCSCCollagen triple helix repeat (20 copies)

Collagenaa 182–234UCSCCollagen triple helix repeat (20 copies)

Collagenaa 291–353UCSCCollagen triple helix repeat (20 copies)

Collagenaa 423–483UCSCCollagen triple helix repeat (20 copies)

Collagenaa 491–552UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IV alpha 2 chain

HGNC Alias Symbols

FLJ22259; DKFZp686I14213

Papers

RefSeq ID

Protein change

DNA change

1–12 of 557 variants

21 papers

NM_001846.4

p.E1123G

c.3368A>G

14 papers

NM_001846.4

p.R517K

c.1550G>A

14 papers

NM_001846.4

p.A1690T

c.5068G>A

11 papers

NM_001846.4

p.Q1150K

c.3448C>A

9 papers

NM_001846.4

p.G683A

c.2048G>C

8 papers

NM_001846.4

p.G702D

c.2105G>A

7 papers

NM_001846.4

p.P718S

c.2152C>T

6 papers

NM_001846.4

p.P650S

c.1948C>T

6 papers

NM_001846.4

p.G1037E

c.3110G>A

6 papers

NM_001846.4

p.G1152D

c.3455G>A

6 papers

NM_001846.4

p.D1366N

c.4096G>A

6 papers

NM_001846.4

p.V1399I

c.4195G>A