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.R85H

c.254G>A

Surrounding Variants

1 paper

NM_001037763.3

p.Q80Q

c.240A>G

1 paper

NM_001037763.3

p.K92*

c.274A>T

1 paper

NM_001037763.3

p.K92R

c.275A>G

1 paper

NM_001037763.3

p.A94delFs

c.282delT

1 paper

NM_001037763.3

p.A95fs

c.283_284fs

1 paper

NM_001037763.3

p.S100R

c.298A>C

1 paper

NM_001037763.3

p.S100R

c.300C>G

1 paper

NM_001037763.3

p.S100R

c.300C>A

1 paper

NM_001037763.3

p.D69Y

c.205G>T

1 paper

NM_001037763.3

p.V102A

c.305T>C

1 paper

NM_001037763.3

p.Y135H

c.403T>C

1 paper

NM_001037763.3

p.A140T

c.418G>A