Varaico: Literature-Extracted Genetic Variants

COL9A2

232 papers

RefSeq Summary

This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues contain...

Pfam Domains

Collagenaa 25–83UCSCCollagen triple helix repeat (20 copies)

Collagenaa 60–116UCSCCollagen triple helix repeat (20 copies)

Collagenaa 113–171UCSCCollagen triple helix repeat (20 copies)

Collagenaa 176–235UCSCCollagen triple helix repeat (20 copies)

Collagenaa 406–481UCSCCollagen triple helix repeat (20 copies)

Collagenaa 460–524UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IX alpha 2 chain

HGNC Previous Symbol

EDM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_001852.4

p.L335V

c.1003C>G

Surrounding Variants

1 paper

NM_001852.4

p.A336T

c.1006G>A

1 paper

NM_001852.4

p.A336E

c.1007C>A

1 paper

NM_001852.4

p.G328E

c.983G>A

2 papers

NM_001852.4

p.G328R

c.982G>C

3 papers

NM_001852.4

p.G328R

c.982G>A

23 papers

NM_001852.4

p.Q326R

c.977A>G

1 paper

NM_001852.4

p.Q326delins

c.976_977delinsTG

13 papers

NM_001852.4

p.Q326*

c.976C>T

1 paper

NM_001852.4

p.A324V

c.971C>T

1 paper

NM_001852.4

p.Q323H

c.969G>T

1 paper

NM_001852.4

p.Q323H

c.969G>C

1 paper

NM_001852.4

p.G322*

c.964G>T