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

3 papers

NM_001037763.3

p.I239V

c.715A>G

Surrounding Variants

1 paper

NM_001037763.3

p.N258S

c.773A>G

1 paper

NM_001037763.3

p.P259S

c.775C>T

1 paper

NM_001037763.3

p.I261M

c.783C>G

1 paper

NM_001037763.3

p.G266fs

c.796_797fs

1 paper

NM_001037763.3

p.G266delFs

c.798delT

1 paper

NM_001037763.3

p.A274T

c.820G>A

1 paper

NM_001037763.3

p.Q275E

c.823C>G

1 paper

NM_001037763.3

p.I183T

c.548T>C

1 paper

NM_001037763.3

p.G182E

c.545G>A

1 paper

NM_001037763.3

p.D164N

c.490G>A

1 paper

NM_001037763.3

p.V155M

c.463G>A

1 paper

NM_001037763.3

p.R149H

c.446G>A