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

1–12 of 88 variants

8 papers

NM_022834.5

p.G21_R24insFs

c.62_71dup10

6 papers

NM_022834.5

p.G25fs

c.73_74fs

4 papers

NM_022834.5

p.R293delFs

c.879delG

4 papers

NM_022834.5

p.R302Q

c.905G>A

3 papers

NM_022834.5

p.R32*

c.94C>T

3 papers

NM_022834.5

p.M155fs

c.463_464fs

3 papers

NM_022834.5

p.R293fs

c.877_878fs

2 papers

NM_022834.5

p.G21_R24delFs

c.62_71del10

2 papers

NM_022834.5

p.G21fs

c.61_62fs

2 papers

NM_022834.5

p.L71P

c.212T>C

2 papers

NM_022834.5

p.S74R

c.220A>C

2 papers

NM_022834.5

p.S74R

c.222T>A