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

1 paper

NM_001037763.3

p.P488R

c.1463C>G

Surrounding Variants

1 paper

NM_001037763.3

p.R492*

c.1474C>T

1 paper

NM_001037763.3

p.P477T

c.1429C>A

1 paper

NM_001037763.3

p.A472P

c.1414G>C

1 paper

NM_001037763.3

p.P471P

c.1413C>T

1 paper

NM_001037763.3

p.I463V

c.1387A>G

1 paper

NM_001037763.3

p.G452W

c.1354G>T

1 paper

NM_001037763.3

p.G450V

c.1349G>T

1 paper

NM_001037763.3

p.M446I

c.1338G>T

1 paper

NM_001037763.3

p.M446I

c.1338G>C

1 paper

NM_001037763.3

p.M446I

c.1338G>A

1 paper

NM_001037763.3

p.V440M

c.1318G>A

4 papers

NM_001037763.3

p.I437M

c.1311A>G