Varaico: Literature-Extracted Genetic Variants

COL10A1

208 papers

RefSeq Summary

This gene encodes the alpha chain of type X collagen, a short chain collagen expressed by hypertrophic chondrocytes during endochondral ossification. Unlike type VIII collagen, the other short chain c...

Pfam Domains

Collagenaa 103–155UCSCCollagen triple helix repeat (20 copies)

Collagenaa 463–524UCSCCollagen triple helix repeat (20 copies)

C1qaa 553–677UCSCC1q domain

Gene Aliases

HGNC Name

collagen type X alpha 1 chain

HGNC Previous Name

collagen, type X, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_000493.4

p.G618V

c.1853G>T

Surrounding Variants

23 papers

NM_000493.4

p.N617K

c.1851T>G

24 papers

NM_000493.4

p.N617K

c.1851T>A

1 paper

NM_000493.4

p.T619fs

c.1855_1856fs

1 paper

NM_000493.4

p.P620fs

c.1858_1859fs

1 paper

NM_000493.4

p.P620fs

c.1858_1859fs

6 papers

NM_000493.4

p.P620delFs

c.1859delG

2 papers

NM_000493.4

p.P620delFs

c.1858_1859delGG

5 papers

NM_000493.4

p.K616E

c.1846A>G

2 papers

NM_000493.4

p.Y615*

c.1845T>G

3 papers

NM_000493.4

p.Y615*

c.1845T>A

2 papers

NM_000493.4

p.Y615delFs

c.1844delT

3 papers

NM_000493.4

p.P620delFs

c.1860delA