Varaico: Literature-Extracted Genetic Variants

VWA1

77 papers

RefSeq Summary

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et a...

Pfam Domains

VWAaa 34–204UCSCvon Willebrand factor type A domain

fn3aa 333–419UCSCFibronectin type III domain

Gene Aliases

HGNC Name

von Willebrand factor A domain containing 1

HGNC Alias Symbols

FLJ22215; VWA-1; WARP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022834.5

p.S129A

c.385T>G

Surrounding Variants

1 paper

NM_022834.5

p.V140A

c.419T>C

2 papers

NM_022834.5

p.G145G

c.435C>T

1 paper

NM_022834.5

p.G152delFs

c.455_456delGC

1 paper

NM_022834.5

p.G152fs

c.454_455fs

1 paper

NM_022834.5

p.G152A

c.455G>C

2 papers

NM_022834.5

p.P154delFs

c.462delC

2 papers

NM_022834.5

p.M155fs

c.463_464fs

3 papers

NM_022834.5

p.M155fs

c.463_464fs

1 paper

NM_022834.5

p.R102H

c.305G>A

1 paper

NM_022834.5

p.A100V

c.299C>T

1 paper

NM_022834.5

p.S93P

c.277T>C

1 paper

NM_022834.5

p.R172*

c.514C>T