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.Q882L

c.2645A>T

Surrounding Variants

1 paper

NM_001037763.3

p.V895insFs

c.2684dupT

1 paper

NM_001037763.3

p.K897fs

c.2689_2690fs

1 paper

NM_001037763.3

p.V898fs

c.2692_2693fs

1 paper

NM_001037763.3

p.K897delFs

c.2691delT

1 paper

NM_001037763.3

p.R910H

c.2729G>A

2 papers

NM_001037763.3

p.F930L

c.2788T>C

2 papers

NM_001037763.3

p.F930L

c.2790T>G

2 papers

NM_001037763.3

p.F930L

c.2790T>A

1 paper

NM_001037763.3

p.A829S

c.2485G>T

1 paper

NM_001037763.3

p.M824I

c.2472G>T

1 paper

NM_001037763.3

p.M824I

c.2472G>C

1 paper

NM_001037763.3

p.M824I

c.2472G>A