Varaico: Literature-Extracted Genetic Variants

COL24A1

161 papers

RefSeq Summary

This gene is a member of the collagen gene family and is thought to regulate type I collagen fibrillogenesis during fetal development. [provided by RefSeq, Mar 2017].

Pfam Domains

Collagenaa 487–546UCSCCollagen triple helix repeat (20 copies)

Collagenaa 542–603UCSCCollagen triple helix repeat (20 copies)

Collagenaa 594–659UCSCCollagen triple helix repeat (20 copies)

Collagenaa 747–818UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1089–1158UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1140–1199UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXIV alpha 1 chain

HGNC Previous Name

collagen, type XXIV, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 283 variants

7 papers

NM_152890.7

p.A61V

c.182C>T

6 papers

NM_152890.7

p.P731S

c.2191C>T

4 papers

NM_152890.7

p.R641H

c.1922G>A

4 papers

NM_152890.7

p.R1046W

c.3136C>T

3 papers

NM_152890.7

p.R7K

c.20G>A

3 papers

NM_152890.7

p.T328K

c.983C>A

3 papers

NM_152890.7

p.P1067R

c.3200C>G

3 papers

NM_152890.7

p.G1641S

c.4921G>A

2 papers

NM_152890.7

p.A152A

c.456A>G

2 papers

NM_152890.7

p.E420K

c.1258G>A

2 papers

NM_152890.7

p.R448S

c.1344G>T

2 papers

NM_152890.7

p.R448S

c.1344G>C