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.G404E

c.1211G>A

Surrounding Variants

1 paper

NM_001037763.3

p.G404R

c.1210G>C

1 paper

NM_001037763.3

p.G404R

c.1210G>A

1 paper

NM_001037763.3

p.F407L

c.1219T>C

1 paper

NM_001037763.3

p.F407L

c.1221T>G

1 paper

NM_001037763.3

p.F407L

c.1221T>A

1 paper

NM_001037763.3

p.R400S

c.1200G>T

1 paper

NM_001037763.3

p.R400S

c.1200G>C

1 paper

NM_001037763.3

p.P408S

c.1222C>T

1 paper

NM_001037763.3

p.G409E

c.1226G>A

1 paper

NM_001037763.3

p.E394Q

c.1180G>C

1 paper

NM_001037763.3

p.P390S

c.1168C>T

2 papers

NM_001037763.3

p.P390A

c.1168C>G