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

Selected Variant

5 papers

NM_001037763.3

p.T327S

c.980C>G

Surrounding Variants

5 papers

NM_001037763.3

p.T327S

c.979A>T

1 paper

NM_001037763.3

p.P330fs

c.988_989fs

1 paper

NM_001037763.3

p.P330delFs

c.989delG

1 paper

NM_001037763.3

p.Q324*

c.970C>T

1 paper

NM_001037763.3

p.G310E

c.929G>A

1 paper

NM_001037763.3

p.G304V

c.911G>T

1 paper

NM_001037763.3

p.R297L

c.890G>T