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

2 papers

NM_001037763.3

p.G725D

c.2174G>A

Surrounding Variants

1 paper

NM_001037763.3

p.G728G

c.2184C>T

1 paper

NM_001037763.3

p.G713G

c.2139G>A

1 paper

NM_001037763.3

p.E737K

c.2209G>A

1 paper

NM_001037763.3

p.R741W

c.2221C>T

1 paper

NM_001037763.3

p.Q762_G763Splc

c.2287-3T>C

1 paper

NM_001037763.3

p.Q765*

c.2293C>T

1 paper

NM_001037763.3

p.T774R

c.2321C>G

1 paper

NM_001037763.3

p.I785insFs

c.2353_2354ins23

1 paper

NM_001037763.3

p.L797V

c.2389C>G

1 paper

NM_001037763.3

p.V809L

c.2425G>T

1 paper

NM_001037763.3

p.V809L

c.2425G>C

1 paper

NM_001037763.3

p.M824I

c.2472G>T