Varaico: Literature-Extracted Genetic Variants

COL28A1

79 papers

RefSeq Summary

COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010].

Pfam Domains

VWAaa 48–226UCSCvon Willebrand factor type A domain

Collagenaa 534–591UCSCCollagen triple helix repeat (20 copies)

Collagenaa 707–777UCSCCollagen triple helix repeat (20 copies)

VWAaa 798–974UCSCvon Willebrand factor type A domain

Kunitz_BPTIaa 1071–1123UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

collagen type XXVIII alpha 1 chain

HGNC Previous Name

collagen, type XXVIII, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 136 variants

5 papers

NM_001037763.3

p.T327S

c.979A>T

5 papers

NM_001037763.3

p.T327S

c.980C>G

5 papers

NM_001037763.3

p.E433D

c.1299G>T

5 papers

NM_001037763.3

p.E433D

c.1299G>C

4 papers

NM_001037763.3

p.I437M

c.1311A>G

3 papers

NM_001037763.3

p.I239V

c.715A>G

2 papers

NM_001037763.3

p.V7I

c.19G>A

2 papers

NM_001037763.3

p.E367*

c.1099G>T

2 papers

NM_001037763.3

p.P390A

c.1168C>G

2 papers

NM_001037763.3

p.G725D

c.2174G>A

2 papers

NM_001037763.3

p.F930L

c.2788T>C

2 papers

NM_001037763.3

p.F930L

c.2790T>G