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.M1I

c.3G>T

Surrounding Variants

1 paper

NM_022834.5

p.M1R

c.2T>G

1 paper

NM_022834.5

p.A6V

c.17C>T

1 paper

NM_022834.5

p.L7P

c.20T>C

8 papers

NM_022834.5

p.G21_R24insFs

c.62_71dup10

2 papers

NM_022834.5

p.G21_R24delFs

c.62_71del10

1 paper

NM_022834.5

p.A18insFs

c.52_53ins10

1 paper

NM_022834.5

p.A18E

c.53C>A

1 paper

NM_022834.5

p.R19R

c.55C>A

2 papers

NM_022834.5

p.G21fs

c.61_62fs

1 paper

NM_022834.5

p.R24insFs

c.71dupG

1 paper

NM_022834.5

p.G25Splc

c.73+32G>A

1 paper

NM_022834.5

p.G25Splc

c.74-237C>T