Varaico: Literature-Extracted Genetic Variants

COL9A3

234 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 24–84UCSCCollagen triple helix repeat (20 copies)

Collagenaa 53–117UCSCCollagen triple helix repeat (20 copies)

Collagenaa 178–237UCSCCollagen triple helix repeat (20 copies)

Collagenaa 460–522UCSCCollagen triple helix repeat (20 copies)

Collagenaa 549–610UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IX alpha 3 chain

HGNC Alias Symbols

IDD; EDM3; FLJ90759; DJ885L7.4.1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 398 variants

13 papers

NM_001853.4

p.R103W

c.307C>T

7 papers

NM_001853.4

p.D617E

c.1851C>A

7 papers

NM_001853.4

p.D617E

c.1851C>G

6 papers

NM_001853.4

p.R90*

c.268C>T

6 papers

NM_001853.4

p.R103Q

c.308G>A

5 papers

NM_001853.4

p.G35D

c.104G>A

5 papers

NM_001853.4

p.G130S

c.388G>A

5 papers

NM_001853.4

p.P564_G566del3

c.1690_1697del9

4 papers

NM_001853.4

p.D49_G50Splc

c.148-2A>T

4 papers

NM_001853.4

p.P369_G370Splc

c.1107+1G>C

4 papers

NM_001853.4

p.G454E

c.1361G>A

4 papers

NM_001853.4

p.R471*

c.1411C>T