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.R54Q

c.161G>A

Surrounding Variants

1 paper

NM_022834.5

p.V53G

c.158T>G

1 paper

NM_022834.5

p.F56C

c.167T>G

1 paper

NM_022834.5

p.R52_V53ins10

c.154_158ins30

1 paper

NM_022834.5

p.R52W

c.154C>T

1 paper

NM_022834.5

p.V57delFs

c.170delT

1 paper

NM_022834.5

p.V57G

c.170T>G

1 paper

NM_022834.5

p.L60V

c.178C>G

1 paper

NM_022834.5

p.A62_L71del10

c.184_212del30

1 paper

NM_022834.5

p.A62_A70del0

c.186_209del24

1 paper

NM_022834.5

p.A62T

c.184G>A

1 paper

NM_022834.5

p.G67D

c.200G>A

1 paper

NM_022834.5

p.A70S

c.208G>T