Varaico: Literature-Extracted Genetic Variants

COL9A1

207 papers

RefSeq Summary

This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II c...

Pfam Domains

Collagenaa 23–83UCSCCollagen triple helix repeat (20 copies)

Collagenaa 113–166UCSCCollagen triple helix repeat (20 copies)

Collagenaa 172–231UCSCCollagen triple helix repeat (20 copies)

Collagenaa 211–270UCSCCollagen triple helix repeat (20 copies)

Collagenaa 259–315UCSCCollagen triple helix repeat (20 copies)

Collagenaa 266–325UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type IX alpha 1 chain

HGNC Previous Name

collagen, type IX, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 370 variants

11 papers

NM_001851.6

p.R295*

c.883C>T

9 papers

NM_001851.6

p.S339P

c.1015T>C

7 papers

NM_001851.6

p.E450G

c.1349A>G

7 papers

NM_001851.6

p.R507*

c.1519C>T

7 papers

NM_001851.6

p.Q621R

c.1862A>G

3 papers

NM_001851.6

p.P301L

c.902C>T

3 papers

NM_001851.6

p.G302S

c.904G>A

3 papers

NM_001851.6

p.S351*

c.1052C>A

3 papers

NM_001851.6

p.E374*

c.1120G>T

3 papers

NM_001851.6

p.G457R

c.1369G>C

3 papers

NM_001851.6

p.G457R

c.1369G>A

3 papers

NM_001851.6

p.R471*

c.1411C>T