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.A255delFs

c.763delG

Surrounding Variants

1 paper

NM_022834.5

p.G254W

c.760G>T

2 papers

NM_022834.5

p.P253delFs

c.757delC

1 paper

NM_022834.5

p.A255fs

c.763_764fs

1 paper

NM_022834.5

p.G241A

c.722G>C

1 paper

NM_022834.5

p.W232*

c.696G>A

1 paper

NM_022834.5

p.W232*

c.695G>A

1 paper

NM_022834.5

p.P285L

c.854C>T

1 paper

NM_022834.5

p.T221insFs

c.662dupC

1 paper

NM_022834.5

p.H219R

c.656A>G

4 papers

NM_022834.5

p.R293delFs

c.879delG

3 papers

NM_022834.5

p.R293fs

c.877_878fs

4 papers

NM_022834.5

p.R302Q

c.905G>A